nstd201 (Favilla et al. 2021)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Bianca Favilla
- Description:
- Our study characterized the clinical impact of unbalanced X-autosome translocations. The SVs reported herein were SVs identified in three patients with unbalanced translocations, whose clinical features are related to the pathogenicity of the SVs and also the spread of X-chromosome inactivation into autosomal regions. See Variant Summary counts for nstd201 in dbVar Variant Summary.
- Publication(s):
- Favilla et al. 2021