Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Supporters

Support the authors with ResearchCoin

Tip RSC

Journal

Nature Genetics

Topics

Biology

Bioinformatics

Medicine

Pathology

Genetics

Show all topics

DOI

10.1038/s41588-024-01836-1

License

CC-BY

Other Formats

PDF