Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment-Reference-Cited by-同舟云学术

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

Published:2020-06 Issue:6 Volume:63 Page:103897
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Cabet Sara,Lesca Gaetan,Labalme Audrey,Des Portes Vincent,Guibaud Laurent,Sanlaville Damien,Pons Linda

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

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