Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.S259L
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GCDH

NM_000159.4:p.S259L

Associated Papers

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.

Zhang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Array genotyping as diagnostic approach in medical genetics.

Witsch-Baumgartner M et al.

Molecular Genetics & Genomic Medicine, 2022

35912641 (PubMed )
Supplement: MGG3-10-e2016-s001.docx

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.

Wilhelm K et al.

Frontiers in Genetics, 2022

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

Christensen E et al.

Journal of Inherited Metabolic Disease, 2004

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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."