Varaico: Literature-Extracted Genetic Variants

Gene:ITGB8
Variant:p.R622H
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ITGB8

NM_002214.3:p.R622H

Associated Papers

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › D1D2D3

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J et al.

Molecular Genetics & Genomic Medicine, 2019

30809968 (PubMed )
Supplement: MGG3-7-e605-s002.xlsx › Supp_Table2__Missense_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."