Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.A14G
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PMS2

NM_000535.7:p.A14G

Associated Papers

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X et al.

American Journal of Human Genetics, 2021

33357406 (PubMed )
Supplement: mmc2.xlsx › TableS5_AllVariants

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Chubb D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

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