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A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis

BACKGROUND: Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed. However, there are still pathogenic variants that remain unidentified. METH...

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Détails bibliographiques
Publié dans:BMC Med Genomics
Auteurs principaux: Wanitsuwan, Worrawit, Vijasika, Sukanya, Jirarattanasopa, Pichai, Horpaopan, Sukanya
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2021
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7980625/
https://ncbi.nlm.nih.gov/pubmed/33740971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00933-y
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