Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q96*
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MEN1

NM_001370259.2:p.Q96*

Associated Papers

Two novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report.

Dai Z et al.

Hereditary Cancer in Clinical Practice, 2026

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

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

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

32937789 (PubMed )
Supplement: cancers-12-02616-s001.zip › cancers-901091-final_check-supplementary › Supplementary_Table_S4.xlsx › CRAVAT_output_non-TCGA_rajaseka

Long-term follow-up and novel splice donor mutation in MEN1 in a Chinese family.

Li M et al.

Oncotarget, 2018

Is Routine Screening of Young Asymptomatic MEN1 Patients Necessary?

Manoharan J et al.

World Journal of Surgery, 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

Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

Crépin M et al.

Electrophoresis, 2003

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V et al.

Human Mutation, 2002

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

Vergès B et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

Giraud S et al.

American Journal of Human Genetics, 1998

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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."