Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.C317fs
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FKRP

NM_024301.5:p.C317fs

Associated Papers

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Liang WC et al.

Orphanet Journal of Rare Diseases, 2020

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

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Wang L et al.

Orphanet Journal of Rare Diseases, 2018

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.

Liang WC et al.

Neuromuscular Disorders : Nmd, 2013

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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."