Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MCD.0000000000000326 | DOI Listing |
Publication Analysis
Top Keywords
expansion phenotypic
4
phenotypic spectrum
4
spectrum smc1a
4
smc1a nonsense
4
nonsense variants
4
variants patient
4
patient cerebellar
4
cerebellar atrophy
4
atrophy review
4
review literature
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!