Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V372del1
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FKRP

NM_024301.5:p.V372del1

Associated Papers

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.

Lin F et al.

Orphanet Journal of Rare Diseases, 2023

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I et al.

Nature Communications, 2016

27194101 (PubMed )
Supplement: ncomms11534-s1.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."