Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.L202Q
Back to variants list

FKRP

NM_024301.5:p.L202Q

Associated Papers

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

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

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

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.

Krag TO et al.

Skeletal Muscle, 2011

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

Sveen ML et al.

Annals of Neurology, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."