Results 131 to 140 of about 806,334 (155)

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

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

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

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

A Study on the Clinical Phenotypes and Genetic Analysis of <i>ENG</i> Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 Families. [PDF]

Hum Mutat
Gong Y, Zhou T, Fu X, Jiang Y, Wang D, Gu C, Wu R, Wang D, Yu C.   +8 more
europepmc   +1 more source

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome. [PDF]

Front Med (Lausanne)
Wang X, Dong L, Qiu H, Wang B, Wang S, Zhou W.   +5 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

A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis. [PDF]

Orphanet J Rare Dis
Guo W, Yang X, Du W, Lin X, Zhang W, Zhang Q, Meng Z, Wang S, Liao S, Guo Z.   +9 more
europepmc   +1 more source

Correction: Regulation of oncogenic C-terminal truncated p53β protein isoform expression by SRSF3-UPF1 splicing and surveillance axis. [PDF]

Cell Biosci
Jeong J, Hong D, Park TY, Hur J, Koo T, Jeong S.   +5 more
europepmc   +1 more source

A Novel Deep-Intronic <i>CFAP44</i> Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella. [PDF]

Appl Clin Genet
Ma Y, Yang Y, Zhang T, Hu D, Zhao Y, Mai X, Ni J, Zhang J.   +7 more
europepmc   +1 more source