Results 131 to 140 of about 537,790 (185)

Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence. [PDF]

Mol Syndromol
Wang M, Hong J, Han S, Jin P, Xu C, Qian Y, Dong M.   +6 more
europepmc   +1 more source

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss. [PDF]

Mol Genet Genomic Med, 2023
Yang Z, Huang M, Wei X, Sun J, Zhang F.
europepmc   +1 more source

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals. [PDF]

Congenit Anom (Kyoto)
Kuroda Y, Nagai K, Saito Y, Shimokaze T, Aida N, Satake T, Naruto T, Kurosawa K.   +7 more
europepmc   +1 more source

Regulation of MCCC1 expression by a Parkinson's disease-associated intronic variant: implications for pathogenesis. [PDF]

J Hum Genet
Sogabe S, Nakano H, Ogasahara Y, Cha PC, Ando Y, Taniguchi-Ikeda M, Matsumoto R, Kanagawa M, Kobayashi K, Murayama S, Aoi T, Toda T, Satake W.   +12 more
europepmc   +1 more source

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome. [PDF]

Clin Genet
Mingoia M, Meloni A, Sedda S, Choufani S, Asunis I, Gemma G, Ammendola A, Torabi-Marashi A, di Venere E, Squeo GM, Rallo V, Marini MG, Moi P, Savasta S, Weksberg R, Merla G, Angius A.   +16 more
europepmc   +1 more source

Case Report: A novel intronic variant of <i>NIPBL</i> gene detected in a child with cornelia de lange syndrome. [PDF]

Front Genet
Shao XT, Dai YX, Zhao YF, Chen YH, Ying LJ.   +4 more
europepmc   +1 more source

A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the <i>CYP21A2</i> Gene. [PDF]

Int J Mol Sci
Antysheva Z, Esibov A, Avsievich E, Petriaikina E, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Krupinova J, Ivashechkin A, Katsaran Y, Woroncow M, Skvortsova V, Bogdanov V, Volchkov P.   +14 more
europepmc   +1 more source

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy. [PDF]

Ital J Pediatr
Bai J, Li P, Jiao H, Jin Y, Wang H, Jiang Q, Song F, Peng X, Qu Y.   +8 more
europepmc   +1 more source

Pathogenic Deep Intronic Variant in <i>CNGB3</i> Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia. [PDF]

Case Rep Genet
Gregory MR, Liaqat K, Treat K, Haider KM, Vetrini F, Conboy E.   +5 more
europepmc   +1 more source

A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops. [PDF]

Genes Dis
Hou W, Huang G, Wei H, Li W, Huang H, Qiu Y, Zhu H, Han H, Chen P, Zhang X.   +9 more
europepmc   +1 more source