Analysis of genotype–phenotype correlations in PAX6-associated aniridia

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

(2019) Dulce Lima Cunha et al.   Genes

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

(2018) Alexandra Yu. Filatova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Using protein design algorithms to understand the molecular basis of disease caused by protein–DNA interactions: the Pax6 example

(2010) Andreu Alibés et al.   NUCLEIC ACIDS RESEARCH

Analysis of Pax6 Contiguous Gene Deletions in the Mouse, Mus musculus , Identifies Regions Distinct from Pax6 Responsible for Extreme Small-Eye and Belly-Spotting Phenotypes

(2009) Jack Favor et al.   GENETICS

Pax6 3′ deletion results in aniridia, autism and mental retardation

(2008) L. K. Davis et al.   HUMAN GENETICS