Results 101 to 110 of about 4,405 (166)

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

Functional Evaluation of PKD1 Intronic Variants by Minigene Assays

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

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1. [PDF]

Hum Genomics
Planté-Bordeneuve P, Jourdain AS, Thuillier C, Caux A, Tessarech M, Meneboo JP, Ait-Yahya E, Costantini S, Brunelle P, Smol T.   +9 more
europepmc   +1 more source

SRSF3 determines T_reg cell fate in antitumor immunity and autoimmunity. [PDF]

Sci Adv
Jia R, Guo J, Yan L, Lin C, Jia J, Shao J, Zhang D, Liu N, Chen W.   +8 more
europepmc   +1 more source

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients. [PDF]

Mol Genet Genomic Med
Wang Q, Xiao H, Zhang F, Li H, Zhao J, Yuan H.   +5 more
europepmc   +1 more source

c.98 + 3A>G and c.155 + 1G>T splice-site variants in the <i>ABO*B.01</i> allele lead to weak antigen expression in the Chinese individuals. [PDF]

Front Immunol
Zhang J, Ying Y, Hong X, Zhu F.
europepmc   +1 more source

Characterization of a Splice Variant in <i>FLNA</i> Associated With Periventricular Nodular Heterotopia. [PDF]

Neurol Genet
Zhang Y, Huang Y, Huang X, Gao H, Lin J, He X, Li P, Mei L.   +7 more
europepmc   +1 more source