Matches in Nanopublications for { ?s ?p "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP591712.RACfUlfmSeECokyQ9RTBO-2mL5FtCyQSrK2Wz1Jg_s5hY130_assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP591712.RACfUlfmSeECokyQ9RTBO-2mL5FtCyQSrK2Wz1Jg_s5hY130_provenance.
- NP252184.RAemt2edQXOmFospWRwPXxfy-WrnNvZVHeea_5GI3eVYg130_assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP252184.RAemt2edQXOmFospWRwPXxfy-WrnNvZVHeea_5GI3eVYg130_provenance.
- NP426994.RAQjQ_LGosnCTXacS_XhMN5DIKLweFEge02fDlNdkxkno130_assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP426994.RAQjQ_LGosnCTXacS_XhMN5DIKLweFEge02fDlNdkxkno130_provenance.
- NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_provenance.
- assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.