Associated Papers
A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.
Yao W et al.
Molecular Genetics & Genomic Medicine, 2025
[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].
Zhao X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D et al.
Brain : a Journal of Neurology, 2022
Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome.
Galvez-Ruiz A et al.
Neuro-ophthalmology (aeolus Press), 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
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