Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.R286_G289del0
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ACADVL

NM_000018.4:p.R286_G289del0

Associated Papers

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.

Li L et al.

Frontiers in Genetics, 2024

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
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