First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Author:

Lin Jin‐Huan123,Tang Xin‐Ying23,Boulling Arnaud1,Zou Wen‐Bin23,Masson Emmanuelle14,Fichou Yann15,Raud Loann1,Le Tertre Marlène1,Deng Shun‐Jiang23,Berlivet Isabelle1,Ka Chandran145,Mort Matthew6,Hayden Matthew6,Leman Raphaël78,Houdayer Claude8,Le Gac Gerald145,Cooper David N.6,Li Zhao‐Shen23,Férec Claude1,Liao Zhuan23ORCID,Chen Jian‐Min1ORCID

Affiliation:

1. EFS, Univ Brest, Inserm, UMR 1078, GGB F‐29200 Brest France

2. Department of Gastroenterology, Changhai HospitalSecond Military Medical University Shanghai China

3. Shanghai Institute of Pancreatic Diseases Shanghai China

4. CHU Brest, Service de Génétique Brest France

5. Laboratory of Excellence GR‐Ex Paris France

6. Institute of Medical Genetics, School of MedicineCardiff University Cardiff United Kingdom

7. Laboratoire de Biologie et Génétique du CancerCentre François Baclesse Caen France

8. Department of GeneticsF76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital Rouen France

Funder

Etablissement Français du Sang

Institut National de la Santé et de la Recherche Médicale

National Natural Science Foundation of China

China Scholarship Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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