Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.R386H
Back to variants list

ALOX12B

NM_001139.3:p.R386H

Associated Papers

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

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Cheng R et al.

Clinical Genetics, 2020

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

Borská R et al.

Orphanet Journal of Rare Diseases, 2019

Autosomal recessive congenital ichthyoses in the Czech Republic.

Bučková H et al.

The British Journal of Dermatology, 2016

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."