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.
Advisor
Publication Date
Language
en
Type
Journal Title
Journal ISSN
Volume Title
Abstract
Source:
European Journal of Human Genetics
Publisher:
Springernature
Keywords:
Subject
Medicine