Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.F441L
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FKRP

NM_024301.5:p.F441L

Associated Papers

Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.

Jensen SM et al.

Journal of Neuromuscular Diseases, 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.

Stensland E et al.

Neuromuscular Disorders : Nmd, 2011

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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."