Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q508*
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MEN1

NM_001370259.2:p.Q508*

Associated Papers

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Kim B et al.

Endocrinology and Metabolism (seoul, Korea), 2024

39552147 (PubMed )
Supplement: enm-2024-2008-Supplemental-Table-S1.pdf

Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts.

Koyama N et al.

Internal Medicine (tokyo, Japan), 2022

When Parathyroidectomy Should Be Indicated or Postponed in Adolescents With MEN1-Related Primary Hyperparathyroidism.

Marini F et al.

Frontiers in Endocrinology, 2018

Cystic parathyroid glands in MEN1: A rare entity?

Cavalli T et al.

Familial Cancer, 2017

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

Ribozyme-mediated compensatory induction of menin-oncosuppressor function in primary fibroblasts from MEN1 patients.

Luzi E et al.

Cancer Gene Therapy, 2010

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."