Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.F238S
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PAX3

NM_181458.4:p.F238S

Associated Papers

Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.

Wu TF et al.

The Journal of Biological Chemistry, 2015

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.

Xiao Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2011

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

A cascade of genes related to Waardenburg syndrome.

Tachibana M

The Journal of Investigative Dermatology. Symposium Proceedings, 1999

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

Baldwin CT et al.

American Journal of Medical Genetics, 1995

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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."