Varaico: Literature-Extracted Genetic Variants

Gene:ALOXE3
Variant:p.R140*
Back to variants list

ALOXE3

NM_021628.3:p.R140*

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Lima Cunha D et al.

Molecular Genetics & Genomic Medicine, 2019

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.

Ullah R et al.

International Journal of Dermatology, 2016

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Wang T et al.

International Journal of Molecular Sciences, 2015

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Liu Y et al.

Plos One, 2015

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."