Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.L71S
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SGCG

NM_000231.3:p.L71S

Associated Papers

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Saha M et al.

Physiological Genomics, 2018

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM et al.

Journal of Human Genetics, 2017

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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."