Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
Source
Journal of medical genetics - ISSN 0022-2593- (2025) p.
TBP repeat expansion analysis in patients carrying heterozygous STUB1 variants
Source
Movement disorders: video, videotape supplements - ISSN 0885-3185-40:5 (2025) p. 980-985