Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.L340F
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GCDH

NM_000159.4:p.L340F

Associated Papers

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Yoldas Celik M et al.

European Journal of Pediatrics, 2024

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

Tibelius A et al.

Genes, 2023

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Bozaci AE et al.

Molecular Genetics and Metabolism Reports, 2023

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.

Kılavuz S et al.

Neuropediatrics, 2021

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

Gürbüz BB et al.

European Journal of Medical Genetics, 2020

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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."