Varaico: Literature-Extracted Genetic Variants

Gene:ITIH3
Variant:p.V254M
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ITIH3

NM_002217.4:p.V254M

Associated Papers

Familial colorectal cancer: search for novel predisposition genes.

Försti A et al.

Human Genomics, 2025

41469725 (PubMed )
Supplement: 40246_2025_901_MOESM2_ESM.xlsx › A._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

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Germer EL et al.

Frontiers in Neurology, 2019

31920912 (PubMed )
Supplement: Data_Sheet_1.pdf
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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."