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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACADVL

Variant:p.V283M

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ACADVL

NM_000018.4:p.V283M

hg38:chr17:7222271 G>A

Associated Papers

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Schwantje M et al.

Journal of Inherited Metabolic Disease, 2026

41702539 (PubMed )

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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."