Hildegard Kehrer-Sawatzki1. Show Affiliations » 1. Institute of Human Genetics, University of Ulm, Germany.
Abstract
Entities: Disease Gene
Mesh: See more » Amino Acid SubstitutionCodonFemaleHumansMaleMutation, MissenseNeurofibromin 1/geneticsNoonan Syndrome/diagnosisNoonan Syndrome/geneticsPhenotype
Substances: See more » CodonNeurofibromin 1
Year: 2015 PMID: 26457592 DOI: 10.1002/humu.22669
Source DB: PubMed Journal: Hum Mutat ISSN: 1059-7794 Impact factor: 4.878