Results 121 to 130 of about 806,334 (155)

Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay. [PDF]

BMC Med Genomics
Yang F, Wang M.
europepmc   +1 more source

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics. [PDF]

J Med Genet
Calandra N, Mereu E, Ogliara P, Casalis Cavalchini G, Giachino DF, Parasiliti Caprino M, Gai G, Mussa A, Vallero S, Grosso E, Zonta A, Fagioli F, Ruggiu M, Pasini B, Piva R.   +14 more
europepmc   +1 more source

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B. [PDF]

NPJ Precis Oncol
Köhler A, Baumann AA, Lewis N, Richter A, Richter S, William D, Cruz-García A, Glimm H, Fröhling S, Le Duc D, Schröck E, Jahn A.   +11 more
europepmc   +1 more source

Functional Validation of a Novel Homozygous <i>TTN</i> Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy. [PDF]

Hum Mutat
Sun X, Wang D, Wang S, Wan R, Jiang Z, Zhang W, Ouyang J, Shen Y, Hong K.   +8 more
europepmc   +1 more source

Reclassification of the <i>GRIA3</i> splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms. [PDF]

Front Genet
Hu L, Chai Y, Liu X, Wang Y, Jiang H.
europepmc   +1 more source

Case Report: A somatic <i>NF1</i> splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis. [PDF]

Front Neurosci
Su S, Zou H, Lin Y, Jiang H, Ren Y, Zhang W, Hu W, Li D, Zhang W, Zhang H.   +9 more
europepmc   +1 more source

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous <i>CTNNA3</i> Splice-Site Variant. [PDF]

Hum Mutat
Martino S, Doimo M, Iacoviello M, Giovine C, Stella A, Forleo C, Bagnulo R, Lenato GM, Guaricci AI, Trevisson E, Resta N.   +10 more
europepmc   +1 more source

Targeting <i>EZH2</i> oncogenic splicing: decoding the regulatory network and antisense correction. [PDF]

Genes Dev
Islam MR, Nagar P, McNaughton N, Heeamoni SA, Hasan MM, Kandel S, Mukta IJ, Tsakiroglou P, Dalton WB, Abdel-Wahab O, Krainer AR, Rahman MA.   +11 more
europepmc   +1 more source

A Novel Splice Variant in the <i>COL1A1</i> Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta. [PDF]

Hum Mutat
Zhang Y, Liu H, Yin A, Liu S, Huang W, Zhang Y, Jia B.   +6 more
europepmc   +1 more source

Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family. [PDF]

Mol Genet Genomic Med
Zhang S, Tang X, Yang L, Wang Y, Cui Y, Chen X.   +5 more
europepmc   +1 more source