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
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.
Zhang R et al.
Human Mutation, 2021
Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
Zhao X et al.
Bmc Nephrology, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.
Castellsagué J et al.
Embo Molecular Medicine, 2015
25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-001_SNV
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.
Fuster DG et al.
Kidney International, 2008
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Karet FE et al.
Nature Genetics, 1999
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_3
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