Results 191 to 200 of about 64,882 (210)

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease. [PDF]

Cells
Suárez-Herrera N, Li CHZ, Leijsten N, Karjosukarso DW, Corradi Z, Bukkems F, Duijkers L, Cremers FPM, Hoyng CB, Garanto A, Collin RWJ.   +10 more
europepmc   +1 more source

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Eur J Med Genet
Harkness JR, Thomas HB, Urquhart JE, Jamieson P, Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG.   +8 more
europepmc   +1 more source

Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index [PDF]

American Journal of Human Genetics, 2023
Inés F Scheller, Christian Mertes, Vicente A Yépez   +2 more
exaly   +2 more sources

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RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

Cancers, 2021
Elena Bueno-Martinez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo   +2 more
exaly  

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

Clinical and Experimental Nephrology, 2022
Eri Okada, Chika Ueda, Hideaki Kitakado   +2 more
exaly  

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Journal of Clinical Medicine, 2021
Mev Dominguez-Valentin, John-Paul Plazzer, Julian R Sampson   +2 more
exaly  

Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors

Nucleic Acids Research, 2021
Juan Yuan, Miriam Cipullo, Mingzhi Liu   +2 more
exaly  

Characterization of the aberrant splicing of MAP3K7 induced by cancer-associated SF3B1 mutation

Journal of Biochemistry, 2021
Zhuang Li, Youzhong Wan
exaly  

Aberrant splicing promotes colon tumour growth

Nature Reviews Cancer, 2014
Isabel Lokody, Lokody Isabel
exaly  

Intron-derived aberrant splicing of A20 transcript in rheumatoid arthritis

Rheumatology, 2013
Hee Sun Byun, Juhee Jeon, Jang Hee Hong
exaly