Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R2Q
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FKRP

NM_024301.5:p.R2Q

Associated Papers

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Sarkozy A et al.

Neuromuscular Disorders : Nmd, 2012

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY et al.

Human Mutation, 2009

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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."