Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.N373K
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GCDH

NM_000159.4:p.N373K

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

Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Schuurmans IME et al.

Journal of Inherited Metabolic Disease, 2023

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

Tamhankar PM et al.

Journal of Pediatric Genetics, 2021

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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."