Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.L322V
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FKRP

NM_024301.5:p.L322V

Associated Papers

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

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

Bourteel H et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients].

Bourteel H et al.

Revue Neurologique, 2007

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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."