Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q192*
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MEN1

NM_001370259.2:p.Q192*

Associated Papers

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

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Whole-genome_SNVs

Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

Chou WC et al.

International Journal of Biological Sciences, 2016

27994516 (PubMed )
Supplement: ijbsv12p1523s2.pdf

Novel MEN 1 gene findings in rare sporadic insulinoma--a case control study.

Jyotsna VP et al.

Bmc Endocrine Disorders, 2015

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

Tham E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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

Jäger AC et al.

Molecular and Cellular Endocrinology, 2006

Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours.

Langer P et al.

The British Journal of Surgery, 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."