Results 141 to 150 of about 11,911 (175)

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 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

A novel <i>ABO</i> splice site variant underlying the A₃ phenotype: immunogenetic basis and functional dissection. [PDF]

Front Genet
Guan HL, Hou J, Gao JL, Li J, Zhang XM, Chen X, Fu XM.   +6 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

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

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

Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome. [PDF]

Hum Genomics
Wang L, Wang Z, Zhao Y, Liu X, Cui Q, Zhang S, Zhang R, Shao L.   +7 more
europepmc   +1 more source

Coordinated alternative splicing decisions via stepwise exon definition. [PDF]

Nucleic Acids Res
Kristofori P, Xiao Z, Braun S, Busch A, Zarnack K, König J, Legewie S, Li C.   +7 more
europepmc   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome. [PDF]

J Pathol
Shi T, Huang Y, Su X, Yu L, Zhao Y, Cheng J.   +5 more
europepmc   +1 more source

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