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.
Date
Language
Type
Embargo Status
Journal Title
Journal ISSN
Volume Title
Alternative Title
Abstract
Source
Publisher
Springernature
Keywords
Medicine
Citation
Has Part
Source
European Journal of Human Genetics