Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion> ?p ?o ?g. }
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- NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion type Assertion NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_head.
- NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion description "[Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_provenance.
- NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion evidence source_evidence_literature NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_provenance.
- NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion SIO_000772 16098078 NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_provenance.
- NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion wasDerivedFrom befree-20140225 NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_provenance.
- NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion wasGeneratedBy ECO_0000203 NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_provenance.