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Paper Details

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Am J Med Genet A
3
2022
AAGTGAAG, NAGN AG, NM_000455, Peutz-Jeghers syndrome, STK11 transcripts, STK11 variants, c.[735-, hamartomatous polyps, intron 5 STK11, mRNA, peripheral blood mRNA, premature termination codon, short distance tandem sites, tandem alternative splice sites, tandem proximal splice acceptor, tandem splice sites, variant transcript
Author NameAffiliation
Nour GazzazUniversity of British Columbia and Women's Hospital of British Columbia
Nour GazzazKing Abdulaziz University
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
Praveen F CherukuriSanford Health and Research Center and Sanford School of Medicine, University of South Dakota
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Datasets

ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink