Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.P271S
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AHR

NM_001621.5:p.P271S

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

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: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.

Cazabat L et al.

Hormone Research, 2009

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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."