Varaico: Literature-Extracted Genetic Variants

Gene:XIRP2
Variant:p.E737K
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XIRP2

NM_152381.6:p.E737K

Associated Papers

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.

Huang L et al.

Journal of the American Heart Association, 2018

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
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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."