Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.Y155C
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GCDH

NM_000159.4:p.Y155C

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 › S4

Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.

Qian GL et al.

World Journal of Pediatrics : Wjp, 2016

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

Mushimoto Y et al.

Molecular Genetics and Metabolism, 2011

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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."