Varaico: Literature-Extracted Genetic Variants

Gene:OBSCN
Variant:p.W2034*
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OBSCN

NM_001386125.1:p.W2034*

Associated Papers

Rhabdomyolysis associated with OBSCN mutations: case report and mechanistic review.

Liu Q et al.

Neuromuscular Disorders : Nmd, 2025

Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case Report.

Sun X et al.

Molecular Genetics & Genomic Medicine, 2025

Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis.

Zemorshidi F et al.

Neuromuscular Disorders : Nmd, 2024

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Cabrera-Serrano M et al.

Brain : a Journal of Neurology, 2022

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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."