Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.G339S
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JPH2

NM_020433.5:p.G339S

Associated Papers

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Cazzato F et al.

International Journal of Legal Medicine, 2024

38849547 (PubMed )
Supplement: 414_2024_3264_MOESM1_ESM.xlsx › Foglio1

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

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I et al.

Plos One, 2017

28771489 (PubMed )
Supplement: pone.0181465.s002.xlsx › Supplementary_Table_2
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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."