Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

Author:

Gazzaz Nour12,Frost F. Graeme3,Alderman Emily1,Richmond Phillip A.4,Dalmann Joshua4,Lin Susan4,Salman Areesha4,Del Bel Kate L.4,Lehman Anna4,Turvey Stuart E.4,Boerkoel Cornelius F.1ORCID,Cherukuri Praveen F.5

Affiliation:

1. Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia Vancouver British Columbia Canada

2. Department of Pediatrics King Abdulaziz University Jeddah Saudi Arabia

3. National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health Bethesda Maryland USA

4. The Rare Disease Discovery Hub BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia Vancouver British Columbia Canada

5. Imagenetics, Sanford Health and Research Center and Sanford School of Medicine University of South Dakota Sioux Falls South Dakota USA

Funder

Common Fund for Commodities

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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