Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_assertion> ?p ?o ?g. }
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- NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_assertion type Assertion NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_head.
- NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_assertion description "[Mutations in the MPV17 gene have been reported in patients who came to medical attention during infancy with liver failure, hypoglycemia, failure-to-thrive and neurological symptoms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_provenance.
- NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_assertion evidence source_evidence_literature NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_provenance.
- NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_assertion SIO_000772 20074988 NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_provenance.
- NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_assertion wasDerivedFrom befree-2016 NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_provenance.
- NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_assertion wasGeneratedBy ECO_0000203 NP787163.RAF_ceTtGpLi62bW0tE7FcRy6Y4G0D2KEI8GrqQRTM8GE130_provenance.