Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.N172_G173ins2
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JPH2

NM_020433.5:p.N172_G173ins2

Associated Papers

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

Jones EG et al.

Scientific Reports, 2019

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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."