Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.G171W
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GCDH

NM_000159.4:p.G171W

Associated Papers

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

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

Heringer J et al.

Annals of Neurology, 2010

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

Kölker S et al.

Pediatric Research, 2007

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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."