Varaico: Literature-Extracted Genetic Variants

Gene:JPH1
Variant:p.R213P
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JPH1

NM_020647.4:p.R213P

Associated Papers

Genetic profiling of synchronous pituitary corticotroph adenomas.

Zhang D et al.

Pituitary, 2025

40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM3_ESM.xlsx › Suppl_Table3

The role of junctophilin proteins in cellular function.

Lehnart SE et al.

Physiological Reviews, 2022

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.

González-Sánchez P et al.

International Journal of Molecular Sciences, 2019

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Pla-Martín D et al.

Human Molecular Genetics, 2015

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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."