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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALOX12B

Variant:p.E532Q

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ALOX12B

NM_001139.3:p.E532Q

hg38:chr17:8075655 C>G

Associated Papers

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

26762237 (PubMed )

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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."