Associated Papers
Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.
Scolari C et al.
Genes, 2025
41300798 (PubMed )
Supplement: genes-16-01346-s001.zip › genes-3940097-supplementary.pdf
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Select a paper to view details