Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.Y2512*
Back to variants list

ABCA12

NM_173076.3:p.Y2512*

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

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Sun Q et al.

Jama Dermatology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."