Publication: Recessive mutations in SCNM1 are a new cause of orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia
Program
KU-Authors
KU Authors
Co-Authors
Iturrate, Asier
Rivera-Barahona, Ana
Flores, Carmen-Lisset
Aotaify, Ghada
Elhossini, Rasha
Perez-Sanz, Marina L.
Nevado, Julian
Tenorio, Jair
Carlos Trivino, Juan
Garcia-Gonzalo, Francesc R.
Publication Date
Language
Type
Embargo Status
Journal Title
Journal ISSN
Volume Title
Alternative Title
Abstract
Source
Publisher
Springernature
Subject
Medicine
Citation
Has Part
Source
European Journal of Human Genetics