Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.A385T
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ACADS

NM_000017.4:p.A385T

Associated Papers

Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).

Qian G et al.

Molecular Genetics and Metabolism Reports, 2026

Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Cordo' V et al.

Nature Communications, 2022

35217681 (PubMed )
Supplement: 41467_2022_28682_MOESM4_ESM.xlsx › Supplementary_Data_1

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

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Wang W et al.

Bmc Medical Genetics, 2019

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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."