Results 101 to 110 of about 6,757 (149)

Correction: A novel splicing variant in <i>NBAS</i> identified by minigene assay causes infantile liver failure syndrome type 2. [PDF]

Front Genet
Hu A, Liang J, Liu H, Jiang J, Xie F, Zhou X, Zhang X.   +6 more
europepmc   +1 more source

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

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

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome. [PDF]

J Pathol
Shi T, Huang Y, Su X, Yu L, Zhao Y, Cheng J.   +5 more
europepmc   +1 more source

A Novel <i>ABO*O.01.02-B.01</i> Hybrid Allele with a c.28+1G>A Variation Causing the Bel Phenotype. [PDF]

Ann Lab Med
Shao LN, Li CX, Xia YX, Yang YC, Li N, Wang LY, Zhou SH, Fan YX.   +7 more
europepmc   +1 more source

Identification and pathogenicity analysis of a novel intronic <i>COL4A5</i> variant in a Chinese family. [PDF]

Front Med (Lausanne)
Qian P, Huang HM, Suo L, Li Z, Zhang M, Bao Y.   +5 more
europepmc   +1 more source

Minigene-based splicing analysis uncovers pathogenic splice-altering effects of PAX2. [PDF]

BMC Pediatr
Chi D, Xu K, Ren Y, Ding J, Wang F.
europepmc   +1 more source

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome. [PDF]

BMC Med Genomics
Sun L, Shu D, He W, Ma R, Tao H, Yang Z, Li Y, Liu Z, Zhang Y, Zhao Y.   +9 more
europepmc   +1 more source

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M. [PDF]

BMC Med Genomics
Yan L, Liu Y, Zhang Y, Han C, Cao J, Zou J, Luo H, Li H.   +7 more
europepmc   +1 more source

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification. [PDF]

HGG Adv
Lin JH, Wu H, Tang XY, Masson E, Stenson PD, Phillips AD, Cooper DN, Férec C, Liao Z, Zou WB, Chen JM.   +10 more
europepmc   +1 more source