Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay-Reference-Cited by-同舟云学术

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Published:2020-07-27 Issue:10 Volume:41 Page:1797-1810
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Dionnet Eugénie¹,Defour Aurélia¹^ORCID,Da Silva Nathalie¹,Salvi Alexandra¹,Lévy Nicolas¹²³^ORCID,Krahn Martin¹²,Bartoli Marc¹^ORCID,Puppo Francesca¹^ORCID,Gorokhova Svetlana¹²^ORCID

Affiliation:

1. Faculté des Sciences Médicales et Paramédicales, Marseille Medical Genetics Aix Marseille Université, INSERM Marseille France

2. Service de génétique Médicale Hôpital de la Timone, APHM Marseille France

3. GIPTIS (Genetics Institute for Patients, Therapies Innovation and Science) Marseille France

Funder

AFM-Téléthon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24083

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