Results 121 to 130 of about 880,486 (157)

A Study on the Clinical Phenotypes and Genetic Analysis of <i>ENG</i> Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 Families. [PDF]

Hum Mutat
Gong Y, Zhou T, Fu X, Jiang Y, Wang D, Gu C, Wu R, Wang D, Yu C.   +8 more
europepmc   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

A novel <i>ABO</i> splice site variant underlying the A₃ phenotype: immunogenetic basis and functional dissection. [PDF]

Front Genet
Guan HL, Hou J, Gao JL, Li J, Zhang XM, Chen X, Fu XM.   +6 more
europepmc   +1 more source

Smoking exposure alters splicing of the nicotinic acetylcholine receptor subunit CHRNA5. [PDF]

Hum Genomics
Hogshead MH, Adu-Gyamfi A, Papenberg BW, Yan W, Lee CH, Florez-Vargas O, Prokunina-Olsson L.   +6 more
europepmc   +1 more source

Correction: Regulation of oncogenic C-terminal truncated p53β protein isoform expression by SRSF3-UPF1 splicing and surveillance axis. [PDF]

Cell Biosci
Jeong J, Hong D, Park TY, Hur J, Koo T, Jeong S.   +5 more
europepmc   +1 more source

Splicing dependency between EIF4G2 introns is mediated by exon definition and relies on a downstream splicing event. [PDF]

J Biol Chem
Pelletier ML, Vincent J, Malo T, Séguin C, Tsybulskyi V, Semenchenko E, Soumana Adamou I, Meyer IM, Choquet K.   +8 more
europepmc   +1 more source

A Novel Deep-Intronic <i>CFAP44</i> Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella. [PDF]

Appl Clin Genet
Ma Y, Yang Y, Zhang T, Hu D, Zhao Y, Mai X, Ni J, Zhang J.   +7 more
europepmc   +1 more source

A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis. [PDF]

Orphanet J Rare Dis
Guo W, Yang X, Du W, Lin X, Zhang W, Zhang Q, Meng Z, Wang S, Liao S, Guo Z.   +9 more
europepmc   +1 more source

Splicing defect and functional characterization of the ETFDH c.1049G > A VUS underlying transient MADD: an iPSC and minigene study. [PDF]

Orphanet J Rare Dis
Dong R, Wang X, Zhang H, Liu G.
europepmc   +1 more source

A <i>CHD7</i> intronic variant induces aberrant splicing and structural alterations in the CHD7 DNA-binding domain to cause CHARGE syndrome. [PDF]

Am J Transl Res
Fei Y, Hu D, Liu L, Tian X, Chai J, Wu L, Li A, Zhang Q, Li D.   +8 more
europepmc   +1 more source