Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.E260*
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FKRP

NM_024301.5:p.E260*

Associated Papers

Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).

Ma K et al.

Biorxiv : the Preprint Server for Biology, 2024

37873263 (PubMed )
Supplement: media-4.xlsx › Restructured_data

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Safwat S et al.

Neurogenetics, 2024

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

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

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