Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.