Matches in Nanopublications for { ?s ?p "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of�OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion description "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of�OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion description "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of�OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance.
- NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_assertion description "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of�OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion description "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of�OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.