Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.S25S
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FKRP

NM_024301.5:p.S25S

Associated Papers

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.

Lin F et al.

Orphanet Journal of Rare Diseases, 2023

Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.

Chen Z et al.

Journal of Neuromuscular Diseases, 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."