Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.F2286fs
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ABCA12

NM_173076.3:p.F2286fs

Associated Papers

Clinical and genetic insights into ABCA12 variants in three Chinese families with ichthyosis: Genotype-phenotype correlation.

Wang B et al.

The Journal of Dermatology, 2025

Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.

Chang TY et al.

Taiwanese Journal of Obstetrics & Gynecology, 2025

[Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis].

Yan X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."