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Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis

BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon cancer. Although most patients with FAP harbored germline mutations in APC gene, it was recently recognized that patients with clin...

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Vydáno v:BMC Med Genomics
Hlavní autoři: Kim, Borahm, Won, Dongju, Jang, Mi, Kim, Hoguen, Choi, Jong Rak, Kim, Tae Il, Lee, Seung-Tae
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6610853/
https://ncbi.nlm.nih.gov/pubmed/31269945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0553-0
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