Matches in Nanopublications for { ?s ?p "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP3607.RAR1srKrinkpJa1rKYS3G7aPeoylccWJzU9tBxskxWbtU130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3607.RAR1srKrinkpJa1rKYS3G7aPeoylccWJzU9tBxskxWbtU130_provenance.
- NP3599.RAp-6d0Qq_uJwMsVCdKKZM_6BSZlMjXvrLoTkhZCiz030130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3599.RAp-6d0Qq_uJwMsVCdKKZM_6BSZlMjXvrLoTkhZCiz030130_provenance.
- NP224750.RABipJ1uBFaWzrs8gnKbHhce2NW3IRSbTGtCBcniCa5qY130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP224750.RABipJ1uBFaWzrs8gnKbHhce2NW3IRSbTGtCBcniCa5qY130_provenance.
- NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- NP374513.RAr_jkj9d8eLMfFm29eLW7GAE9FLKpynrjZ4tgUIfrypc130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP374513.RAr_jkj9d8eLMfFm29eLW7GAE9FLKpynrjZ4tgUIfrypc130_provenance.
- NP937045.RAvtfJIKMEVgSCQwJrF5DC39GJ8tlBnEPTB2uut-qx_kg130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP937045.RAvtfJIKMEVgSCQwJrF5DC39GJ8tlBnEPTB2uut-qx_kg130_provenance.
- NP311851.RAG8_1PQMsS_Z9YJPilUv0J6dkiC4sek_WekIdNT9fcVg130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311851.RAG8_1PQMsS_Z9YJPilUv0J6dkiC4sek_WekIdNT9fcVg130_provenance.
- NP736573.RAHKhIfLJBMadFBYCGE-4ihMHYzpUAr9IGYFgAA2sR-5Q130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP736573.RAHKhIfLJBMadFBYCGE-4ihMHYzpUAr9IGYFgAA2sR-5Q130_provenance.
- NP567384.RA8fyfwcoT9X5zK7WsVhzMex7we4sVHTRVhk6aS8pOvP8130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP567384.RA8fyfwcoT9X5zK7WsVhzMex7we4sVHTRVhk6aS8pOvP8130_provenance.