Matches in Nanopublications for { ?s ?p "[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_assertion description "[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_provenance.
- NP636225.RAmDbTejhIcafXHTd2MDjrRcAvfRiR2U5nwo4T646c2cM130_assertion description "[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP636225.RAmDbTejhIcafXHTd2MDjrRcAvfRiR2U5nwo4T646c2cM130_provenance.
- NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_assertion description "[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_provenance.
- NP1004309.RA0R8lQ9ZcZXvU38TZUlgxLjYemRHVP7_8uIpd9EgZkBI130_assertion description "[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1004309.RA0R8lQ9ZcZXvU38TZUlgxLjYemRHVP7_8uIpd9EgZkBI130_provenance.
- NP1004312.RAvnSoyiEKC84pCygBK6vjeN4Dopda7zs9tLDtvGN_HtM130_assertion description "[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1004312.RAvnSoyiEKC84pCygBK6vjeN4Dopda7zs9tLDtvGN_HtM130_provenance.
- NP881956.RAjhMQxi16ov65rVZVXlhwvdu237tN3ed4yHqarr1iWWM130_assertion description "[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP881956.RAjhMQxi16ov65rVZVXlhwvdu237tN3ed4yHqarr1iWWM130_provenance.