Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.R198P
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SGCD

NM_000337.6:p.R198P

Associated Papers

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Alonso-Pérez J et al.

Brain : a Journal of Neurology, 2022

[Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy].

Saintmard G et al.

Revue Medicale De Liege, 2017

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

Boito C et al.

Journal of Medical Genetics, 2003

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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."