Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.L181delFs
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AIP

NM_003977.4:p.L181delFs

Associated Papers

Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview.

Bilbao Garay I et al.

Journal of Clinical Medicine, 2020

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

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

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

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

[Genetics of familial pituitary adenomas].

Beckers A et al.

Bulletin De L'academie Nationale De Medecine, 2009

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

Cazabat L et al.

Hormone Research, 2009

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

AIP gene in pituitary adenoma predisposition.

Vahteristo P et al.

Expert Review of Endocrinology & Metabolism, 2007

Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.

Karhu A et al.

Human Molecular Genetics, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 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."