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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:JPH2

Variant:p.S168R

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JPH2

NM_020433.5:p.S168R

hg38:chr20:44160283 G>C

Associated Papers

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

Vanninen SUM et al.

Plos One, 2018

30235249 (PubMed )

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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."