Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S815S
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PMS2

NM_000535.7:p.S815S

Associated Papers

Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.

Bouras A et al.

Human Molecular Genetics, 2024

PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.

Bouras A et al.

Genes, Chromosomes & Cancer, 2024

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