Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P89R
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FKRP

NM_024301.5:p.P89R

Associated Papers

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.

Vieira NM et al.

Neuromuscular Disorders : Nmd, 2006

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

Matsumoto H et al.

Neuromuscular Disorders : Nmd, 2005

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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."