Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.F91V
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DNAJB6

NM_058246.4:p.F91V

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Kang PB et al.

Neurology. Genetics, 2023

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Zima J et al.

European Journal of Medical Genetics, 2020

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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."