Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A266T
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FKRP

NM_024301.5:p.A266T

Associated Papers

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Episodes of exercise-induced dark urine and myalgia in LGMD 2I.

Lindberg C et al.

Acta Neurologica Scandinavica, 2012

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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."