Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.I258T
Back to variants list

ACADVL

NM_000018.4:p.I258T

Associated Papers

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

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Hesse J et al.

Journal of Inherited Metabolic Disease, 2018

[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].

Sebők Á et al.

Orvosi Hetilap, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."