Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.W286S
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FKRP

NM_024301.5:p.W286S

Associated Papers

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.

Park HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2016

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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."