Varaico: Literature-Extracted Genetic Variants

Gene:ACADSB
Variant:p.Q99*
Back to variants list

ACADSB

NM_001609.4:p.Q99*

Associated Papers

Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes.

Noerenberg D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024

38055913 (PubMed )
Supplement: DS3_JCO.23.01053.xlsx › Table_S2.7

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

Porta F et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Alfardan J et al.

Molecular Genetics and Metabolism, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."