Log in to save to my catalogue

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlat...

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlat...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e5fde5b935d94e489442269158031e3c

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

About this item

Full title

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

Publisher

United States: John Wiley & Sons, Inc

Journal title

Molecular genetics & genomic medicine, 2022-01, Vol.10 (1), p.e1840-n/a

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Background
Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low‐level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation. Five recent reports have described how low‐level splicing of cryptic exons can be modulated by common single‐nucl...

Alternative Titles

Full title

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_e5fde5b935d94e489442269158031e3c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e5fde5b935d94e489442269158031e3c

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.1840

How to access this item