Varaico: Literature-Extracted Genetic Variants

Gene:XIRP2
Variant:p.R1715H
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XIRP2

NM_152381.6:p.R1715H

Associated Papers

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

Campuzano O et al.

Human Mutation, 2019

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

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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."