Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.K459_S461delins
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ACAD9

NM_014049.5:p.K459_S461delins

Associated Papers

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.

Lunke S et al.

Nature Medicine, 2025

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Ball M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
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