Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.E285A
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FKRP

NM_024301.5:p.E285A

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Krenn M et al.

European Journal of Neurology, 2022

35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_1

DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.

Schmidt WM et al.

Plos Genetics, 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."