Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A157P
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FKRP

NM_024301.5:p.A157P

Associated Papers

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M et al.

Biomedicines, 2023

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

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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."