Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.E319K
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AIP

NM_003977.4:p.E319K

Associated Papers

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Fu Y et al.

Frontiers in Pharmacology, 2019

31572191 (PubMed )
Supplement: Table_4.xlsx › Sheet1

A novel C-terminal nonsense mutation, Q315X, of the aryl hydrocarbon receptor-interacting protein gene in a Japanese familial isolated pituitary adenoma family.

Iwata T et al.

Endocrine Pathology, 2014

Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis.

Cai F et al.

European Journal of Endocrinology, 2013

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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."