Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.L263L
Back to variants list

ACAD9

NM_014049.5:p.L263L

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

He M et al.

American Journal of Human Genetics, 2007

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."