Causative and commonPHOX2Bvariants define a broad phenotypic spectrum
Author:
Affiliation:
1. Laboratorio Neurobiologia dello Sviluppo, Dipartimento di Scienze della Terra dell'Ambiente e della Vita (DISTAV)Università di Genova Genova Italy
2. U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini Genova Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13633
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