Publications
4 shownCharacterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...
The effect of LRRK2 loss-of-function variants in humans
Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...
Frequent Co-Authors
Researcher Info
- h-index
- 4
- Publications
- 4
- Citations
- 3,880
- Institution
- Tampere University
External Links
Identifiers
- ORCID
- 0000-0003-3566-4096
Impact Metrics
h-index
4
h-index: Number of publications with at least h citations each.