Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.R578fs
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PMS2

NM_000535.7:p.R578fs

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N et al.

Journal of Medical Genetics, 2015

Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Guerrini-Rousseau L et al.

Neuro-oncology Advances, 0

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