Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.W231C
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FKRP

NM_024301.5:p.W231C

Associated Papers

Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.

Qualtieri A et al.

International Journal of Molecular Sciences, 2024

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.

Esapa CT et al.

Frontiers in Molecular Biosciences, 2023

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.

Wood AJ et al.

Nature Communications, 2021

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants.

Okazaki T et al.

Human Genome Variation, 2020

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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."