Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.D1058Splc
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MSH6

NM_000179.3:p.D1058Splc

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

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.

Leenen CH et al.

Gynecologic Oncology, 2012

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