Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.D220N
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GCDH

NM_000159.4:p.D220N

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

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

Couce ML et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

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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."