Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P130_D131insFs
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FKRP

NM_024301.5:p.P130_D131insFs

Associated Papers

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Murphy LB et al.

Annals of Clinical and Translational Neurology, 2020

32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M et al.

Human Molecular Genetics, 2001

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