Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.C544R
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ALOX12B

NM_001139.3:p.C544R

Associated Papers

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.

Sefer AP et al.

Frontiers in Immunology, 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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.

Bland PJ et al.

The British Journal of Dermatology, 2015

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