Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.K607N
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ALOX12B

NM_001139.3:p.K607N

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

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

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Diociaiuti A et al.

Orphanet Journal of Rare Diseases, 2016

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