Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.L407V
Back to variants list

GCDH

NM_000159.4:p.L407V

Associated Papers

Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review.

Wei L et al.

Brain and Behavior, 2025

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

Tibelius A et al.

Genes, 2023

38137040 (PubMed )
Supplement: genes-14-02218-s001.zip › genes-2754842-supplementary.xlsx › S1

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

Patel B et al.

Jimd Reports, 2018

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.

Pierson TM et al.

Neurogenetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."