Identification of deleterious variants in nine polycystic kidney disease affected families
Author:
Funder
National Natural Science Foundation of China
China Postdoctoral Science Foundation
Publisher
Elsevier BV
Reference23 articles.
1. Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency;Adamson;Genome. Biol.,2018
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3. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases;Bullich;Kidney Int.,2018
4. Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants;Burgmaier;Kidney Int.,2021
5. Exome sequencing of a clinical population for autosomal dominant polycystic kidney disease;Chang;JAMA,2022
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