Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.E46_R54del0
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AIP

NM_003977.4:p.E46_R54del0

Associated Papers

Risk category system to identify pituitary adenoma patients with AIP mutations.

Caimari F et al.

Journal of Medical Genetics, 2018

29440248 (PubMed )
Supplement: jmedgenet-2017-104957supp001.docx

Resistant Paediatric Somatotropinomas due to AIP Mutations: Role of Pegvisomant.

Joshi K et al.

Hormone Research in Paediatrics, 2018

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A et al.

Endocrine Reviews, 2013

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

Daly AF et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."