Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.T293I
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FKRP

NM_024301.5:p.T293I

Associated Papers

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B et al.

Annals of Human Genetics, 2019

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."