Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.A362D
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GCDH

NM_000159.4:p.A362D

Associated Papers

Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.

Tibelius A et al.

Genes, 2023

CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.

Muñoz-Pujol G et al.

Journal of Inherited Metabolic Disease, 2023

Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Schuurmans IME et al.

Journal of Inherited Metabolic Disease, 2023

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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."