Results 111 to 120 of about 880,486 (157)

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

In vitro analysis of the effects of intronic variants c.940+3_940+6del, c.941-3C>G, and c.2389+5G>A in the LDLR gene on pre-mRNA splicing using a minigene assay. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Danilchenko VY, Ivanoshchuk DE, Timoshchenko OV, Panina EA, Orlov PS, Shakhtshneider EV.   +5 more
europepmc   +1 more source

A Novel Splice Variant in the <i>COL1A1</i> Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta. [PDF]

Hum Mutat
Zhang Y, Liu H, Yin A, Liu S, Huang W, Zhang Y, Jia B.   +6 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

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

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

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

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

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy. [PDF]

Circulation
Yamamoto Y, Chua K, Staudt D, Ferrasse A, Kirillova A, De Jong HN, Floyd BJ, Cadisch C, Wiel L, Wang Q, O'Neill MJ, Tabet D, Goryznski JE, Huang Y, Bai F, Wilson RH, Sharma A, Tapales A, Agrawal R, Wheeler MT, Mercola M, MacRae CA, Roden DM, Roth FP, Glazer AM, Ashley EA, Parikh VN.   +26 more
europepmc   +1 more source

Phenotypic Expansion of <i>PPP1R12A</i>-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations. [PDF]

Genes (Basel)
Pianigiani G, Rosso LE, Morgan A, Spedicati B, Napoli M, Caraffi SG, Coccia E, Polizzi V, Garavelli L, Girotto G.   +9 more
europepmc   +1 more source