Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data

MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterized by the development of multiple adenomatous colonic polyps and an increased lifetime risk of colorectal cancer. Germline biallelic pathogenic variants in MUTYH are responsible for MAP. The MUTYH c.934-2A > G (NM_0011...

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Detalles Bibliográficos
Autores principales: Hernandez, Felicia, Conner, Blair R., Richardson, Marcy E., LaDuca, Holly, Chao, Elizabeth, Pesaran, Tina, Karam, Rachid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Variant Discrepancy Resolution
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744492/
https://www.ncbi.nlm.nih.gov/pubmed/34716202
http://dx.doi.org/10.1101/mcs.a006152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744492/
https://www.ncbi.nlm.nih.gov/pubmed/34716202
http://dx.doi.org/10.1101/mcs.a006152

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