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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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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Wanitsuwan, Worrawit, Vijasika, Sukanya, Jirarattanasopa, Pichai, Horpaopan, Sukanya
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
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Acesso em linha: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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