Results 131 to 140 of about 880,486 (157)

Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene. [PDF]

Mol Genet Genomic Med
Shen W, Zhang Y, Wu J, Zhao J, Lv Y, Tang X.   +5 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

Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome. [PDF]

Hum Genomics
Wang L, Wang Z, Zhao Y, Liu X, Cui Q, Zhang S, Zhang R, Shao L.   +7 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

Identification of <i>Cis</i>-Regulatory Elements Involved in Mutually Exclusive Alternative Splicing of Exon 3 in <i>SfGluCl</i> from <i>Spodoptera frugiperda</i>. [PDF]

Genes (Basel)
Lin K, Song Z, Huang Q, Hasnain A, Tang T, Xu W, Amponsah P, Zhao C.   +7 more
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 <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

A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA splicing. [PDF]

J Genet Eng Biotechnol
Zhang C, Li S, Leng R, Deng M, Yang G.
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

Functional and structural characterization of <i>POR</i> splicing variants reveals pathogenic mechanisms in PORD. [PDF]

Front Endocrinol (Lausanne)
Zhang XJ, Zhou FY, Xu XW, Wang C, Qian Y, Gong CY, Sheng WC, Shu JB, Cai CQ, Zhang MY.   +9 more
europepmc   +1 more source