Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q405*
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MEN1

NM_001370259.2:p.Q405*

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

Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2022

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Scheipl S et al.

Therapeutic Advances in Medical Oncology, 2021

34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

Romanet P et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome.

Beijers HJBH et al.

European Journal of Endocrinology, 2019

De novo mutation in MEN1 is not associated with parental somatic mosaicism.

Laitman Y et al.

Endocrine-related Cancer, 2017

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

Pardi E et al.

Plos One, 2017

Genomic landscape of pancreatic neuroendocrine tumors.

Gebauer N et al.

World Journal of Gastroenterology, 2014

Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

Chung YJ et al.

Endocrinology and Metabolism (seoul, Korea), 2014

DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Jiao Y et al.

Science (new York, N.y.), 2011

Characteristics of the Danish families with multiple endocrine neoplasia type 1.

Jäger AC et al.

Molecular and Cellular Endocrinology, 2006

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

Klein RD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.

Park JH et al.

Clinical Genetics, 2003

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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."