Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.L451fs
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ALOX12B

NM_001139.3:p.L451fs

Associated Papers

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Xiang R et al.

Acta Dermato-venereologica, 2025

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

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Fioretti T et al.

Diagnostics (basel, Switzerland), 2020

Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Wu RC et al.

Cold Spring Harbor Molecular Case Studies, 2017

29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt
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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."