Varaico: Literature-Extracted Genetic Variants

Gene:ITIH1
Variant:p.I399M
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ITIH1

NM_002215.4:p.I399M

Associated Papers

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

A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.

Ebana Y et al.

Journal of Human Genetics, 2007

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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."