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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:JPH2

Variant:p.S165P

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JPH2

NM_020433.5:p.S165P

hg38:chr20:44160294 A>G

Associated Papers

S165F mutation-induced Junctophilin-2 autoinhibition impairs Ca2+ signaling in hypertrophic cardiomyopathy.

Li Z et al.

Communications Biology, 2025

41291214 (PubMed )

Supplement: 42003_2025_9244_MOESM2_ESM.pdf

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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."