Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.M170T
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AIP

NM_003977.4:p.M170T

Associated Papers

Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.

Carranza-Zavala BR et al.

Endocrine-related Cancer, 2026

Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.

Wang X et al.

Frontiers in Genetics, 2023

38192441 (PubMed )
Supplement: Table1.XLSX › Sheet2

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

Chen B et al.

Journal of Inherited Metabolic Disease, 2019

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

Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients.

Cazabat L et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."