Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.R1515Q
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ABCA12

NM_173076.3:p.R1515Q

Associated Papers

Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma.

Chang CY et al.

Clinical and Experimental Dermatology, 2025

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

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Hotz A et al.

Genes, 2024

Identification of T Cell Receptors Targeting a Neoantigen Derived from Recurrently Mutated FGFR3.

Tate T et al.

Cancers, 2023

36831375 (PubMed )
Supplement: cancers-15-01031-s001.zip › Supplementary_Table_S1.xlsx › Table_S1

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Montalván-Suárez M et al.

Molecular Genetics & Genomic Medicine, 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."