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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACADVL

Variant:p.D431H

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ACADVL

NM_000018.4:p.D431H

hg38:chr17:7223834 G>C

Associated Papers

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Berardo C et al.

International Journal of Neonatal Screening, 2025

40407514 (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."