These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
150 related articles for article (PubMed ID: 38841723)
1. Three exonic variants in the Pan F; Zhang R; Liu X; Shi X; Xin Q; Qiao D; Li C; Zhang Y; Chen M; Guo W; Luan S; Shao L Front Genet; 2024; 15():1353674. PubMed ID: 38841723 [No Abstract] [Full Text] [Related]
2. Six Exonic Variants in the Wang S; Wang Y; Wang J; Liu Z; Zhang R; Shi X; Han Y; Guo W; Bottillo I; Shao L Front Genet; 2020; 11():585064. PubMed ID: 33250922 [TBL] [Abstract][Full Text] [Related]
3. Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. Zhang R; Lang Y; Shi X; Zhang Y; Liu X; Pan F; Qiao D; Teng X; Shao L Mol Genet Genomic Med; 2024 Feb; 12(2):e2395. PubMed ID: 38400605 [TBL] [Abstract][Full Text] [Related]
4. Twelve exonic variants in the Xin Q; Liu Q; Liu Z; Shi X; Liu X; Zhang R; Hong Y; Zhao X; Shao L Front Genet; 2022; 13():961384. PubMed ID: 36092934 [No Abstract] [Full Text] [Related]
5. Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. Shi X; Wang H; Zhang R; Liu Z; Guo W; Wang S; Liu X; Lang Y; Bottillo I; Dong B; Shao L Mol Genet Genomic Med; 2023 Apr; 11(4):e2128. PubMed ID: 36597580 [TBL] [Abstract][Full Text] [Related]
6. Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system. Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F Gene; 2016 Mar; 578(1):117-23. PubMed ID: 26692149 [TBL] [Abstract][Full Text] [Related]
7. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations. Perdomo-Ramirez A; de Armas-Ortiz M; Ramos-Trujillo E; Suarez-Artiles L; Claverie-Martin F BMC Med Genet; 2019 Jan; 20(1):6. PubMed ID: 30621608 [TBL] [Abstract][Full Text] [Related]
8. Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. Zhang R; Chen Z; Song Q; Wang S; Liu Z; Zhao X; Shi X; Guo W; Lang Y; Bottillo I; Shao L Hum Mutat; 2021 Sep; 42(9):1153-1164. PubMed ID: 34157794 [TBL] [Abstract][Full Text] [Related]
9. Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay. Liu X; Shi X; Xin Q; Liu Z; Pan F; Qiao D; Chen M; Zhang Y; Guo W; Li C; Zhang Y; Shao L; Zhang R BMC Genomics; 2023 Jul; 24(1):407. PubMed ID: 37468838 [TBL] [Abstract][Full Text] [Related]
10. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease. Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393 [TBL] [Abstract][Full Text] [Related]
11. Functional analysis of the CTNS gene exonic variants predicted to affect splicing. Li C; Zhang R; Pan F; Xin Q; Shi X; Guo W; Qiao D; Wang Z; Zhang Y; Liu X; Zhang Y; Shao L Clin Genet; 2024 Mar; 105(3):323-328. PubMed ID: 38009794 [TBL] [Abstract][Full Text] [Related]
12. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. van der Klift HM; Jansen AM; van der Steenstraten N; Bik EC; Tops CM; Devilee P; Wijnen JT Mol Genet Genomic Med; 2015 Jul; 3(4):327-45. PubMed ID: 26247049 [TBL] [Abstract][Full Text] [Related]
13. Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets. BinEssa HA; Zou M; Al-Enezi AF; Alomrani B; Al-Faham MSA; Al-Rijjal RA; Meyer BF; Shi Y Bone; 2019 Aug; 125():186-193. PubMed ID: 31102713 [TBL] [Abstract][Full Text] [Related]