Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.Q144P
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GCDH

NM_000159.4:p.Q144P

Associated Papers

PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.

Raj A et al.

Computational and Structural Biotechnology Journal, 2024

38292474 (PubMed )
Supplement: mmc4.xlsx › HEK_DiseaseAnnotation

Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Schuurmans IME et al.

Journal of Inherited Metabolic Disease, 2023

Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.

Tp KV et al.

Journal of Pediatric Genetics, 2017

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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."