Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.R62G
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GLB1

NM_000404.4:p.R62G

Associated Papers

Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Saini-Chohan HK et al.

Journal of Lipid Research, 2012

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Knower KC et al.

Plos One, 2011

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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."