Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.S1357*
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ABCA12

NM_173076.3:p.S1357*

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

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val7

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."