Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.F1568_G1569delFs
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ABCA12

NM_173076.3:p.F1568_G1569delFs

Associated Papers

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis.

Soltani N et al.

Clinical Case Reports, 2026

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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."