Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.G188S
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ACADVL

NM_000018.4:p.G188S

Associated Papers

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

Flowers M et al.

Molecular Genetics and Metabolism, 2023

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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