Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Icahn School of Medicine at Mount Sinai · Casa Sollievo della Sofferenza · +13 more institutions
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Abstract
No abstract available for this paper.
Citation impact
699
total citations
- FWCI
- 21.80
- Percentile
- 100%
- References
- 32
Citations per year
Authors
29- BPBhaswati Pandit
Icahn School of Medicine at Mount Sinai
- ASAnna Sárközy
Casa Sollievo della Sofferenza, Sapienza University of Rome
- LPL Pennacchio
Lawrence Berkeley National Laboratory, Joint Genome Institute
- CCClaudio Carta
Istituto Superiore di Sanità
- KOKimihiko Oishi
Icahn School of Medicine at Mount Sinai
Topics & keywords
Topics
Keywords
- Noonan syndrome
- PTPN11
- Costello syndrome
- Biology
- Missense mutation
- Short stature
- Hypertrophic cardiomyopathy
- Internal medicine
UN Sustainable Development Goals
- Good health and well-being
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