Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.P217S
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GCDH

NM_000159.4:p.P217S

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

Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.

Tamhankar PM et al.

Journal of Pediatric Genetics, 2021

Glutaric aciduria type I: A treatable neurometabolic disorder.

Kamate M et al.

Annals of Indian Academy of Neurology, 2012

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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."