Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.C70Y
Back to variants list

PAX3

NM_181458.4:p.C70Y

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Association of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review.

Zafiri J et al.

Biomedical Reports, 2025

Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds.

Avila F et al.

Genes, 2022

Identification of W13 in the American Miniature Horse and Shetland Pony Populations.

Esdaile E et al.

Genes, 2021

Correction: Mutations in MITF and PAX3 Cause "Splashed White" and Other White Spotting Phenotypes in Horses.

Hauswirth R et al.

Plos Genetics, 2019

A novel KIT variant in an Icelandic horse with white-spotted coat colour.

Haase B et al.

Animal Genetics, 2015

26059442 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.

Hauswirth R et al.

Animal Genetics, 2013

23659293 (PubMed )
Supplement: supplement_1.pdf

Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.

Hauswirth R et al.

Plos Genetics, 2012

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."