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Article

In vivo bioassay to test the pathogenicity of missense human AIP variants.

Journal of medical genetics - 1 Aug 2018

Aflorei Elena Daniela, Klapholz Benjamin, Chen Chenghao, Radian Serban, Dragu Anca Neluta, Moderau Nina, Prodromou Chrisostomos, Ribeiro Paulo S, Stanewsky Ralf, Korbonits Márta

Abstract excerpt

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 develop an in vivo system to test the pathogenicity of human AIP mutations using the fruit fly Drosophila melanogaster....

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Source

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Identifiers

PMID: 29632148
DOI: 10.1136/jmedgenet-2017-105191
PMCID: PMC6073908

Genes

AIP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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