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
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx
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
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ et al.
Kidney International Reports, 2022
35812297 (PubMed )
Supplement: mmc1.pdf
Imperfect guide-RNA (igRNA) enables CRISPR single-base editing with ABE and CBE.
Zhao D et al.
Nucleic Acids Research, 2022
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB et al.
Bmc Nephrology, 2021
33691640 (PubMed )
Supplement: 12882_2021_2276_MOESM5_ESM.xlsx › Sheet1
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