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
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
Alfadhel M et al.
Pediatric Nephrology (berlin, Germany), 2023
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
Electrostatic interactions drive native-like aggregation of human alanine:glyoxylate aminostransferase.
Dindo M et al.
The Febs Journal, 2017
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
Pittman AM et al.
Genetics, 2012
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG et al.
Journal of the American Society of Nephrology : Jasn, 2007
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.
Rinat C et al.
Journal of the American Society of Nephrology : Jasn, 1999
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