Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.I274M
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FKRP

NM_024301.5:p.I274M

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: NIHPP2023.07.12.548370v4-supplement-6.pdf

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I et al.

Bmc Musculoskeletal Disorders, 2016

27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx
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