Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.V1346delFs
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ABCA12

NM_173076.3:p.V1346delFs

Associated Papers

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Liu JW et al.

Molecular Genetics & Genomic Medicine, 2024

38702946 (PubMed )
Supplement: MGG3-12-e2431-s001.docx

Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.

Baldo F et al.

Pediatric Rheumatology Online Journal, 2021

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review.

Auriti C et al.

Italian Journal of Pediatrics, 2020

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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."