Varaico: Literature-Extracted Genetic Variants

Gene:IDH3G
Variant:p.R101H
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IDH3G

NM_004135.4:p.R101H

Associated Papers

SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.

Johnsen C et al.

Molecular Genetics and Metabolism, 2024

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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."