Results 131 to 140 of about 12,984 (193)

Genetic Diversity and Haplotype Architecture of Non‐Classical HLA Class I Genes in the Japanese Population

HLA, Volume 108, Issue 2, August 2026.
ABSTRACT The non‐classical Class I genes (HLA‐E, HLA‐F and HLA‐G) show limited protein‐level diversity; however, full‐length analyses that include regulatory and noncoding regions have not been sufficiently performed in East Asian populations. We designed new primers for long‐range PCR and conducted PacBio SMRT sequencing to generate full‐length gene ...
Ikue Ito‐Naito, Seik‐Soon Khor, Tetsuya Sato, Shunichi Wakabayashi, Daisuke Kinoshita, Naoya Kubo, Yosuke Omae, Katsushi Tokunaga, Hiroshi Hayashi   +8 more
wiley   +1 more source

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder. [PDF]

Mol Syndromol, 2019
Brimble E, Lee-Messer C, Nagy PL, Propst J, Ruzhnikov MRZ.   +4 more
europepmc   +1 more source

Investigating the effects of a cryptic splice site in the En2 splice acceptor sequence used in the IKMC knockout-first alleles. [PDF]

Mamm Genome
Nair P, Steel KP, Lewis MA.
europepmc   +1 more source

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. [PDF]

JBMR Plus, 2018
Jin Z, Burrage LC, Jiang MM, Lee YC, Bertin T, Chen Y, Tran A, Gibbs RA, Jhangiani S, Sutton VR, Rauch F, Lee B, Jain M.   +12 more
europepmc   +1 more source

Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas. [PDF]

Pediatr Blood Cancer, 2017
Austin F, Oyarbide U, Massey G, Grimes M, Corey SJ.   +4 more
europepmc   +1 more source

Computational Analysis of Cryptic Splice Sites

, 2019
openaire   +2 more sources

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

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome. [PDF]

Kidney Int Rep
Rao D, van den Berge BT, Vulto-van Silfhout AT, Rood IM, van Wijk JAE, Bökenkamp A, Damen L, Rump P, van der Smagt JJ, Jansen J, Smeets B, Wetzels JF, Maas RJ, van Geel M.   +13 more
europepmc   +1 more source

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 more
europepmc   +1 more source

A novel <i>ANK1</i> gene mutation associated with hereditary spherocytosis: a case report. [PDF]

Front Pediatr
Lai M, Luo Z, Yang Z, Pan R, Huang W, Zhang W, Ma G, Chen R.   +7 more
europepmc   +1 more source