Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion> ?p ?o ?g. }
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- NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion type Assertion NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_head.
- 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.
- NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion evidence source_evidence_literature NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance.
- NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion SIO_000772 22883145 NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance.
- NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion wasDerivedFrom befree-20140225 NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance.
- NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion wasGeneratedBy ECO_0000203 NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance.