Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.R402G
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GCDH

NM_000159.4:p.R402G

Associated Papers

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.

Pirzadeh Z et al.

Iranian Journal of Child Neurology, 2017

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

Christensen E et al.

Journal of Inherited Metabolic Disease, 2004

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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."