Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P305L
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FKRP

NM_024301.5:p.P305L

Associated Papers

Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.

De Paepe B et al.

Acta Neurologica Belgica, 2021

Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.

Henriques SF et al.

Human Mutation, 2019

Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I.

McMillan HJ et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013

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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."