Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.M1T
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AIP

NM_003977.4:p.M1T

Associated Papers

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

Hypermethylator Phenotype and Ectopic GIP Receptor in GNAS Mutation-Negative Somatotropinomas.

Hage M et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Genomic Alterations and Complex Subclonal Architecture in Sporadic GH-Secreting Pituitary Adenomas.

Hage M et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells.

Lecoq AL et al.

Endocrine-related Cancer, 2016

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

Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review.

Personnier C et al.

Hormone Research in Paediatrics, 2011

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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."