Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.H38L
Back to variants list

ACADS

NM_000017.4:p.H38L

Associated Papers

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

Pérez-Cerdá C et al.

European Journal of Human Genetics : Ejhg, 2000

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.

Richard E et al.

Biochimica Et Biophysica Acta, 1999

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."