Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.Y184*
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SGCB

NM_000232.5:p.Y184*

Associated Papers

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Semplicini C et al.

Neurology, 2015

Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes.

Fanin M et al.

Neuropathology and Applied Neurobiology, 2002

Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy.

Pegoraro E et al.

Neuromuscular Disorders : Nmd, 1999

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.

Bönnemann CG et al.

Nature Genetics, 1995

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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."