Publication | Open Access

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsAutosomal Recessive Sca29Asymptomatic Cerebellar HypoplasiaDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationMedicineMissense Variant