Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.F269F
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AIP

NM_003977.4:p.F269F

Associated Papers

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

Martínez de LaPiscina I et al.

European Journal of Endocrinology, 2021

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

Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant?

Karaca Z et al.

Pituitary, 2015

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort.

Preda V et al.

European Journal of Endocrinology, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Igreja S et al.

Human Mutation, 2010

[Genetics of familial pituitary adenomas].

Beckers A et al.

Bulletin De L'academie Nationale De Medecine, 2009

Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas.

Georgitsi M et al.

Clinical Endocrinology, 2008

The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.

Leontiou CA et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."