Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_assertion type Assertion NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_head.
- NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_assertion description "[In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_provenance.
- NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_assertion evidence source_evidence_literature NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_provenance.
- NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_assertion SIO_000772 15028842 NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_provenance.
- NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_assertion wasDerivedFrom befree-2016 NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_provenance.
- NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_assertion wasGeneratedBy ECO_0000203 NP436199.RAeKhqiK84dZrlXa3IYVxKoUOA8h6uCvL9qSI-GIEEnas130_provenance.