Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.R23Q
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ACADVL

NM_000018.4:p.R23Q

Associated Papers

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia.

Shelton GD et al.

Animals : an Open Access Journal From Mdpi, 2024

38998058 (PubMed )
Supplement: animals-14-01946-s001.zip › animals-3051771-supplementary › Sup_Table_S1._List_of_Unique_Coding_Variants.xlsx › Sheet1

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.

Flowers M et al.

Molecular Genetics and Metabolism, 2023

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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."