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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACADVL

Variant:p.F461S

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ACADVL

NM_000018.4:p.F461S

hg38:chr17:7224017 T>C

Associated Papers

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.

Xie Y et al.

Bmc Medical Genomics, 2025

41257776 (PubMed )

Supplement: 12920_2025_2261_MOESM1_ESM.docx

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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."