Varaico: Literature-Extracted Genetic Variants

Gene:EPB41
Variant:p.R815C
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EPB41

NM_001376013.1:p.R815C

Associated Papers

Familial colorectal cancer: search for novel predisposition genes.

Försti A et al.

Human Genomics, 2025

41469725 (PubMed )
Supplement: 40246_2025_901_MOESM3_ESM.xlsx › A._Missense

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.

Försti A et al.

International Journal of Cancer, 2025

39654522 (PubMed )
Supplement: IJC-156-1393-s002.xlsx › 3A._Missense

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."