Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.R402P
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GCDH

NM_000159.4:p.R402P

Associated Papers

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.

Kurkina MV et al.

Metabolic Brain Disease, 2020

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Goodman SI et al.

Human Mutation, 1998

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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."