Varaico: Literature-Extracted Genetic Variants

Gene:ACAD8
Variant:p.N138fs
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ACAD8

NM_014384.3:p.N138fs

Associated Papers

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.

Tang C et al.

International Journal of Neonatal Screening, 2024

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.

Feng J et al.

Orphanet Journal of Rare Diseases, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population.

Zhou W et al.

Frontiers in Pediatrics, 2021

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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."