Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.Y29_G30insFs
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SGCG

NM_000231.3:p.Y29_G30insFs

Associated Papers

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Yiş U et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

White SJ et al.

Human Mutation, 2005

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

Boito C et al.

Journal of Medical Genetics, 2003

Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.

Fanin M et al.

Human Mutation, 2000

C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population.

Todorova A et al.

Human Mutation, 1999

Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.

Dinçer P et al.

Prenatal Diagnosis, 1998

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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."