Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.Q73*
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FKRP

NM_024301.5:p.Q73*

Associated Papers

Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.

Ortiz-Cordero C et al.

Stem Cell Reports, 2021

34653404 (PubMed )
Supplement: mmc1.pdf

A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.

Dhoke NR et al.

Cell Reports, 2021

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
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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."