Associated Papers
A new missense mutation in the paired domain of the mouse Pax3 gene.
Ohno T et al.
Experimental Animals, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
Hanson I et al.
Human Molecular Genetics, 1999
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Hol FA et al.
Human Mutation, 1998
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
Asher JH et al.
Human Mutation, 1996
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