Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion> ?p ?o ?g. }
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- NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion type Assertion NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_head.
- NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_provenance.
- NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion evidence source_evidence_literature NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_provenance.
- NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion SIO_000772 22766003 NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_provenance.
- NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion wasDerivedFrom befree-20140225 NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_provenance.
- NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion wasGeneratedBy ECO_0000203 NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_provenance.