Search details
1.
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Clin Genet
; 103(2): 236-241, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36250766
Results
1 -
1
de 1
1
Next >
>>