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...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Aflorei, Elena Daniela, Klapholz, Benjamin, Chen, Chenghao, Radian, Serban, Dragu, Anca Neluta, Moderau, Nina, Prodromou, Chrisostomos, Ribeiro, Paulo S, Stanewsky, Ralf, Korbonits, Márta
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Diagnostics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6073908/
https://ncbi.nlm.nih.gov/pubmed/29632148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-105191
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