Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W183C
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MEN1

NM_001370259.2:p.W183C

Associated Papers

Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.

Jiang X et al.

World Journal of Surgical Oncology, 2025

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene].

Pylina SV et al.

Problemy Endokrinologii, 2023

Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.

Dreijerink KMA et al.

Epigenetics & Chromatin, 2022

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review.

Song A et al.

Frontiers in Endocrinology, 2020

Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review.

Di Meo G et al.

Clinical and Experimental Medicine, 2018

Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature.

Christakis I et al.

International Journal of Surgery (london, England), 2016

10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods.

Clerici T et al.

Swiss Medical Weekly, 2001

Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature.

del Pozo C et al.

Hormones (athens, Greece), 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."