Varaico: Literature-Extracted Genetic Variants

Gene:JPH1
Variant:p.D125fs
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JPH1

NM_020647.4:p.D125fs

Associated Papers

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.

Johari M et al.

Journal of Medical Genetics, 2024

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.

Johari M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."