Skip to Main Content

Paper Details

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Am J Med Genet A
0
2023
CLTC, CLTC haploinsufficiency, CLTC transcripts, CLTC-related disorder, NAGN AG, NM_, NM_004859, NM_004859.4:r, Tandem splice acceptors, intellectual disability, intron 23, intron 23 CLTC variant, mRNA, peripheral blood mRNA, premature termination codons, proximal splice acceptors, r.3765_3766insTTCACAGAAAGGAACTAG, tandem alternative splice acceptor sites, tandem alternative splice sites, tandem splice sites, variant transcripts
Author NameAffiliation
Wenhui Laura Li
Cornelius F BoerkoelUniversity of British Columbia and Women's Hospital of British Columbia
Cornelius F BoerkoelUniversity of British Columbia and Women's Hospital of British Columbia
  • 1 - 3

Datasets

Release 1.2