Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P519insFs
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MEN1

NM_001370259.2:p.P519insFs

Associated Papers

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Marini F et al.

Endocrine, 2018

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors.

Vannucci L et al.

Endocrine, 2018

The negative feedback-loop between the oncomir Mir-24-1 and menin modulates the Men1 tumorigenesis by mimicking the "Knudson's second hit".

Luzi E et al.

Plos One, 2012

A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet.

Falchetti A et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2008

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

Morelli A et al.

European Journal of Endocrinology, 2000

Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1.

Balogh K et al.

Molecular Genetics and Metabolism, 0

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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."