Results 121 to 130 of about 11,911 (175)

Case Report: A somatic <i>NF1</i> splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis. [PDF]

Front Neurosci
Su S, Zou H, Lin Y, Jiang H, Ren Y, Zhang W, Hu W, Li D, Zhang W, Zhang H.   +9 more
europepmc   +1 more source

Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family. [PDF]

Mol Genet Genomic Med
Zhang S, Tang X, Yang L, Wang Y, Cui Y, Chen X.   +5 more
europepmc   +1 more source

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous <i>CTNNA3</i> Splice-Site Variant. [PDF]

Hum Mutat
Martino S, Doimo M, Iacoviello M, Giovine C, Stella A, Forleo C, Bagnulo R, Lenato GM, Guaricci AI, Trevisson E, Resta N.   +10 more
europepmc   +1 more source

Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1. [PDF]

Orphanet J Rare Dis
Li G, Guo Y, Wang G, Liu H, Lv X, Lin P.
europepmc   +1 more source

Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden. [PDF]

J Transl Med
Celeghin R, Tosato G, Pinci S, Dalla Zanna F, Bueno Marinas M, Cason M, Basso C, Pilichou K.   +7 more
europepmc   +1 more source

FIGLA Novel Variant c.385-9G>A Affects RNA Splicing in a Minigene Assay. [PDF]

Ann Hum Genet
Zhang Y, Hu J, Ren L, Li F, Zhang C, Liu J, You G, Feng Y, Huang S.   +8 more
europepmc   +1 more source

Case Report: Functional validation of a <i>PKD1</i> c.7489 + 5G>A variant in an ADPKD family. [PDF]

Front Genet
Pan Q, Liu Y, Sun X, Lu S, Li L, Shen J.
europepmc   +1 more source

Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function. [PDF]

Hum Genome Var
Shibata T, Akiyama T, Harasaki T, Miyamoto S, Saitsu H, Takenouchi T.   +5 more
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

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