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Targeted next‐generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis
BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested wi...
Gardado en:
| Publicado en: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6382451/ https://ncbi.nlm.nih.gov/pubmed/30523670 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.505 |
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