Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A114V
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FKRP

NM_024301.5:p.A114V

Associated Papers

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I et al.

Bmc Musculoskeletal Disorders, 2016

27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Semplicini C et al.

Neurology, 2015

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Stehlíková K et al.

Bmc Neurology, 2014

25135358 (PubMed )
Supplement: s12883-014-0154-7-S2.docx
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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."