Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.L132F
Back to variants list

ABCD4

NM_005050.4:p.L132F

Associated Papers

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.

Al-Tai MR et al.

Molecular Genetics and Metabolism Reports, 2025

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser AJ et al.

Iscience, 2022

Genetic defects in folate and cobalamin pathways affecting the brain.

Kirsch SH et al.

Clinical Chemistry and Laboratory Medicine, 2013

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."