Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.G168D
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ACADVL

NM_000018.4:p.G168D

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

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.

Tajima G et al.

International Journal of Neonatal Screening, 2024

38390979 (PubMed )
Supplement: IJNS-10-00015-s001.zip › TableS1.pdf
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