Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.E839K
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DSG1

NM_001942.4:p.E839K

Associated Papers

A homozygous FANCM frameshift pathogenic variant causes male infertility.

Yin H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29895858 (PubMed )
Supplement: 41436_2018_15_MOESM1_ESM.pdf

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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