Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Ben Moshe Y et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.
Aoto Y et al.
Kidney International Reports, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
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