Varaico: Literature-Extracted Genetic Variants

Gene:SUGCT
Variant:p.R329W
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SUGCT

NM_001193313.2:p.R329W

Associated Papers

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.

Huggins E et al.

Molecular Genetics and Metabolism Reports, 2024

Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1.

Wu R et al.

Acs Chemical Biology, 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."