Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1276618.RAfunh_hDZrrlnAKkOqZoqRYLD6NtDSJZ45Xa5H3vgPZI#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22883145 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.