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Genetic Severity Score predicts clinical phenotype in NF2

BACKGROUND: The clinical severity of disease in neurofibromatosis type 2 (NF2) is variable. Patients affected with a constitutional truncating NF2 mutation have severe disease, while missense mutations or mosaic mutations present with a milder attenuated phenotype. Genotype-derived natural history...

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Detalles Bibliográficos
Autores principales:	Halliday, Dorothy, Emmanouil, Beatrice, Pretorius, Pieter, MacKeith, Samuel, Painter, Sally, Tomkins, Helen, Evans, D Gareth, Parry, Allyson
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740551/ https://www.ncbi.nlm.nih.gov/pubmed/28848060 http://dx.doi.org/10.1136/jmedgenet-2017-104519

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