(Q86842258)
Statements
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia (English)
Wendy K M Liew
Tawfeg Ben-Omran
Basil T Darras
Sanjay P Prabhu
Darryl C De Vivo
Matteo Vatta
Yaping Yang