Results 101 to 110 of about 9,190 (179)

Pathogenic Analysis of Two <i>SLC22A5</i> Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency. [PDF]

Int J Neonatal Screen
Lin Y, Chen Y, Lin W, Zheng F.
europepmc   +1 more source

A novel homozygous <i>ARFGEF2</i> splice-site variant causing periventricular nodular heterotopia with microcephaly. [PDF]

Front Pediatr
Liu X, Pang L, Li J, Zhang J, Wu W, Li X, Gong Y, Dou Y, Chen F, Sun S.   +9 more
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

An in vivo parallelized reporter assay to uncover tissue-specific splicing regulatory sequences in a multicellular animal. [PDF]

Nucleic Acids Res
Bhatnagar S, Ho J, Sadek NH, Singh I, Zoberman M, Koterniak B, Liu Y, Fusca DD, Cutter AD, Moses AM, Calarco JA.   +10 more
europepmc   +1 more source

RNA-based discovery and correction of splicing defects caused by <i>POLR3A</i> missense mutations. [PDF]

Mol Ther Nucleic Acids
Shkreta L, Delannoy A, Toutant J, McSwiggen J, Chabot B.   +4 more
europepmc   +1 more source

Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation. [PDF]

Orphanet J Rare Dis
Peretto L, Pinotti M, Balestra D.
europepmc   +1 more source

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis. [PDF]

BMC Med Genomics
Chen A, Zhang W, Long P, Chen X, Zhang A, Zhu H, Zeng L, Xiong F, Wang J, Zhu S, Zhou P.   +10 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

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa. [PDF]

Mol Med
Reuter P, Schroeder J, Sturm M, Quinodoz M, Vaclavik V, Bauwens M, De Bruyne M, Leroy B, van Aerschot J, Stingl K, Kohl S.   +10 more
europepmc   +1 more source

Comprehensive self-antigen screening to assess cross-reactivity in promiscuous T-cell receptors. [PDF]

Front Immunol
Sharma G, Teng F, Round J, Sneddon SA, Sivasothy S, Brown SD, Holt RA.   +6 more
europepmc   +1 more source