Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.S221N
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FKRP

NM_024301.5:p.S221N

Associated Papers

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

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
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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."