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In vivo bioassay to test the pathogenicity of missense human AIP variants
BACKGROUND: Heterozygous germline loss-of-function mutations in the aryl hydrocarbon receptor-interacting protein gene (AIP) predispose to childhood-onset pituitary tumours. The pathogenicity of missense variants may pose difficulties for genetic counselling and family follow-up. OBJECTIVE: To devel...
Autores principales: | Aflorei, Elena Daniela, Klapholz, Benjamin, Chen, Chenghao, Radian, Serban, Dragu, Anca Neluta, Moderau, Nina, Prodromou, Chrisostomos, Ribeiro, Paulo S, Stanewsky, Ralf, Korbonits, Márta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073908/ https://www.ncbi.nlm.nih.gov/pubmed/29632148 http://dx.doi.org/10.1136/jmedgenet-2017-105191 |
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