Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.Y88F
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FKRP

NM_024301.5:p.Y88F

Associated Papers

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Liang WC et al.

Orphanet Journal of Rare Diseases, 2020

Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.

Kuwabara N et al.

Nature Communications, 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."