Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.T383M
Back to variants list

ALOX12B

NM_001139.3:p.T383M

Associated Papers

Multiplexed in vivo base editing identifies functional gene-variant-context interactions.

Acosta J et al.

Biorxiv : the Preprint Server for Biology, 2025

40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Hotz A et al.

Genes, 2021

33435499 (PubMed )
Supplement: genes-12-00080-s001.pdf

Inherited ichthyoses: molecular causes of the disease in Czech patients.

Borská R et al.

Orphanet Journal of Rare Diseases, 2019

31046801 (PubMed )
Supplement: 13023_2019_1076_MOESM2_ESM.docx

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

Eckl KM et al.

Human Mutation, 2005

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."