Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.T226I
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FKRP

NM_024301.5:p.T226I

Associated Papers

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).

Allamand V et al.

European Journal of Human Genetics : Ejhg, 2002

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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."