Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.T175delFs
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SGCB

NM_000232.5:p.T175delFs

Associated Papers

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

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M et al.

European Journal of Human Genetics : Ejhg, 2008

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

Khadilkar SV et al.

Neurology India, 0

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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."