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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2163065237> ?p ?o ?g. }

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• W2163065237 abstract "56 which encodes a protein composed of 2843 amino acids and is formed by 14 small exons, and a large exon 15 that extends over three quarters of the coding sequence. To date, more than 500 different APC germline mutations have been reported in FAP patients (see Human Gene Mutation Database and references therein). Most of the germline mutations reported so far are localised in the 59 half of the gene and lead to premature truncation due to single base substitutions or small insertions/deletions, resulting in nonsense or frameshift mutations and rarely in splice site mutations. In a small number of cases, single base substitu- tions within exonic sequences predicted to result in missense or silent variants lead to aberrant splicing. 78 Most APC" @default.
• W2163065237 created "2016-06-24" @default.
• W2163065237 creator A5022096791 @default.
• W2163065237 date "2005-02-01" @default.
• W2163065237 modified "2023-10-18" @default.
• W2163065237 title "Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis" @default.
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• W2163065237 doi "https://doi.org/10.1136/jmg.2004.022822" @default.
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