Results 111 to 120 of about 9,190 (179)

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 <i>ATM</i> Splice-Site Variants. [PDF]

Int J Mol Sci
Llinares-Burguet I, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sanchez A, Romano-Medina D, Ramadane-Morchadi L, García-Álvarez A, Pérez-Segura P, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.   +12 more
europepmc   +1 more source

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR. [PDF]

Eur J Hum Genet
Farooq M, Bruun GH, Sarusie MVK, Kessel L, Akhtar H, Abdullah U, Ali Z, Shah SA, Ali N, Anjum I, Doktor TK, Andresen BS, Baig SM, Larsen LA, Grønskov K.   +14 more
europepmc   +1 more source

Identification and functional analysis of a novel <i>TRAPPC2</i> intronic variant in a four-generation Chinese pedigree with SEDT. [PDF]

Front Genet
Lyu Y, Xu W, Xu B, Tang X, Xiao M, Lan X, Yang Y, Song X, Wu S.   +8 more
europepmc   +1 more source

Functional Evaluation of PKD1 Intronic Variants by Minigene Assays

Kidney International Reports
Youn, Seon Hoo, Kim, Boram, Park, Hayne Cho, Kim, Yong Chul, Bae, Eun Hui, Oh, Yun Kyu, Jang, Joo won, Chae, Seung Won, Lee, Jee-Soo, Seong, Moon-Woo   +9 more
openaire   +2 more sources

Functional sQTLs regulating PTK2B exon 31 splicing uncover an RNA-dependent modulation of its kinase activity and cellular phenotype. [PDF]

Cell Commun Signal
Kato M, Isazawa A, Ohki A, Fujita A, Araki M, Yanaizu M, Kino Y.   +6 more
europepmc   +1 more source

Regulation of Tau Alternative Splicing: A Novel Role for the Ribonucleoprotein RBM20. [PDF]

Int J Mol Sci
Corsi A, Valentino A, Bruno MG, Menichetti G, Belpinati F, Pereira MP, Valenti MT, Ruggiero A, Trabetti E, Bombieri C, Romanelli MG.   +10 more
europepmc   +1 more source

Identification and functional characterization of a novel pathogenic <i>COL1A1</i> splicing variant in a Chinese family with osteogenesis imperfecta. [PDF]

Front Genet
Nie H, Chen Y, Qin P, Xie G, Zhang D, Sun Y, Mo Y.   +6 more
europepmc   +1 more source

Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study. [PDF]

Front Med (Lausanne)
Liu L, Du H, Wang N, Lv S, Yu C, Deng L.
europepmc   +1 more source

A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers. [PDF]

Ann Hematol
Zhang L, Yang J, Li X, Liu Y, Liu C, Duan S, Zhang L, Liu W, Chang M.   +8 more
europepmc   +1 more source

A splicing-derived microRNA from amelogenin exon4 regulates enamel formation via control of exon4 splicing and amelogenin expression. [PDF]

Sci Rep
Shemirani R, Duong T, Kim R, Shetty A, Ansel KM, Nakano Y.   +5 more
europepmc   +1 more source