Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.A114G
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FKTN

NM_001079802.2:p.A114G

Associated Papers

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

Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.

Broman M et al.

Clinical Genetics, 2015

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.

Driss A et al.

Neurology, 2003

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