Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion type Assertion NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_head.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion description "[The proband's mother and aunt, also manifesting with PXE-like skin changes, were heterozygous carriers of a missense mutation (p.V255M) in GGCX and a null mutation (p.R1141X) in the ABCC6 gene, suggesting digenic nature of their skin findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion evidence source_evidence_literature NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion SIO_000772 18800149 NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion wasDerivedFrom befree-20140225 NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion wasGeneratedBy ECO_0000203 NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.