Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
37849991 (PubMed )
Supplement: mmc1.pdf
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.
Wang C et al.
Scientific Reports, 2016
Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.
Mendoza-Reinoso V et al.
Molecular Vision, 2012
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Williams EL et al.
Human Mutation, 2009
An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.
Rumsby G
Urological Research, 2005
The molecular basis of kidney stones.
Langman CB
Current Opinion in Pediatrics, 2004
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2003
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