Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_assertion> ?p ?o ?g. }
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- NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_assertion type Assertion NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_head.
- NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_assertion wasGeneratedBy ECO_0000203 NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_provenance.
- NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_assertion wasDerivedFrom befree-20150227 NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_provenance.
- NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_assertion SIO_000772 22883145 NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_provenance.
- NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_assertion evidence source_evidence_literature NP881958.RAfS4-hIHoZfiyqAGaN1EeUA8iLQ203-W0Vq4SfyUdbXE130_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.