Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 2019
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
Claverie-Martin F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
Mancikova A et al.
Clinical and Experimental Nephrology, 2016
High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.
Gabrikova D et al.
Urolithiasis, 2015
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
Stiburkova B et al.
The American Journal of the Medical Sciences, 2015
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
Stiburkova B et al.
European Journal of Human Genetics : Ejhg, 2013
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