Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.L248R
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FKRP

NM_024301.5:p.L248R

Associated Papers

Current Classification of Canine Muscular Dystrophies and Identification of New Variants.

Shelton GD et al.

Genes, 2023

37628610 (PubMed )
Supplement: genes-14-01557-s001.zip › Table_S1._List_of_the_unique_coding_variants_of_each_dog.xlsx › French_bulldog_case

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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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."