Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.E414Q
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GCDH

NM_000159.4:p.E414Q

Associated Papers

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

Basinger AA et al.

Molecular Genetics and Metabolism, 2006

Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

Liesert M et al.

Journal of Inherited Metabolic Disease, 1999

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."