Varaico: Literature-Extracted Genetic Variants

Gene:JPH3
Variant:p.R437fs
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JPH3

NM_020655.4:p.R437fs

Associated Papers

Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.

Steel D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

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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."