Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R259insFs
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FKRP

NM_024301.5:p.R259insFs

Associated Papers

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Song D et al.

Clinical Genetics, 2021

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.

Xie Z et al.

Orphanet Journal of Rare Diseases, 2019

31747956 (PubMed )
Supplement: 13023_2019_1242_MOESM2_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."