Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_assertion> ?p ?o ?g. }
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- NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_assertion type Assertion NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_head.
- NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_assertion description "[This study found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene in consanguineous families with horizontal gaze palsy and progressive scoliosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_provenance.
- NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_assertion evidence source_evidence_literature NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_provenance.
- NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_assertion SIO_000772 18829051 NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_provenance.
- NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_assertion wasDerivedFrom lhgdn-20090331 NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_provenance.
- NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_assertion wasGeneratedBy ECO_0000203 NP242467.RA0YyoJBbKRZu7ew-pKC-MF88VDa3CDfu7YDZeL_pw9n8130_provenance.