Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.W231*
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FKRP

NM_024301.5:p.W231*

Associated Papers

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

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants.

Okazaki T et al.

Human Genome Variation, 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."