Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.G552C
Back to variants list

ALOX12B

NM_001139.3:p.G552C

Associated Papers

Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.

Chegini M et al.

Archives of Dermatological Research, 2023

Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.

Mae K et al.

The Journal of Dermatology, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."