Result: Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2025

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

npj Genomic Medicine. - 9, 1 (2024) , 49, ISSN: 2056-7944

*DOI*:

10.1038/s41525-024-00436-6

*Result*: Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses