Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.A2T
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ALOX12B

NM_001139.3:p.A2T

Associated Papers

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

Lesueur F et al.

The Journal of Investigative Dermatology, 2007

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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."