Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.V231fs
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MSH6

NM_000179.3:p.V231fs

Associated Papers

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon R et al.

Human Mutation, 2019

30740824 (PubMed )
Supplement: HUMU-40-649-s003.xlsx › CMMRD_Cohort
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