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PubMed:21416598 JSONTXT 17 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-81 Sentence denotes AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
T1 0-81 Sentence denotes AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
TextSentencer_T2 82-404 Sentence denotes We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.
T2 82-404 Sentence denotes We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.
TextSentencer_T3 405-571 Sentence denotes This novel mutation predicts p.Trp663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain.
T3 405-571 Sentence denotes This novel mutation predicts p.Trp663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain.
TextSentencer_T4 572-667 Sentence denotes This nonsense mutation is predicted to destroy the inhibitory action of AXIN2 on WNT signaling.
T4 572-667 Sentence denotes This nonsense mutation is predicted to destroy the inhibitory action of AXIN2 on WNT signaling.
TextSentencer_T5 668-922 Sentence denotes Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia.
T5 668-922 Sentence denotes Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia.
TextSentencer_T6 923-1058 Sentence denotes Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome.
T6 923-1058 Sentence denotes Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome.