Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.Y137*
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GCDH

NM_000159.4:p.Y137*

Associated Papers

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review.

Chen Y et al.

Molecular Genetics and Metabolism Reports, 2024

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

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
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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."