Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.N182S
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FKTN

NM_001079802.2:p.N182S

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

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.

Xie Z et al.

Biomed Research International, 2018

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.

Yamamoto LU et al.

The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2008

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F et al.

European Journal of Human Genetics : Ejhg, 2003

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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."