Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.E402K
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JPH2

NM_020433.5:p.E402K

Associated Papers

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.

Sambuughin N et al.

International Journal of Molecular Sciences, 2024

39457051 (PubMed )
Supplement: ijms-25-11269-s001.zip › Supplemental_Tables_S1-S3.xlsx › Table_S3

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.

Yang ZF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Mutation in JPH2 cause dilated cardiomyopathy.

Sabater-Molina M et al.

Clinical Genetics, 2016

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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."