Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.E57G
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TRPS1

NM_014112.5:p.E57G

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

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Shin G et al.

Genome Medicine, 2021

34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation
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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."