Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A137T
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FKRP

NM_024301.5:p.A137T

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

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

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.

Gouveia TL et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2006

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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."