Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R216W
Back to variants list

FKRP

NM_024301.5:p.R216W

Associated Papers

Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).

Hagedorn JL et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 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
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."