Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R5H
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FKRP

NM_024301.5:p.R5H

Associated Papers

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

Yanagisawa A et al.

European Journal of Medical Genetics, 0

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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."