Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S145S
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MEN1

NM_001370259.2:p.S145S

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

Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Fridman H et al.

Molecular Genetics and Genomics : Mgg, 2021

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

Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).

Thakker RV

Molecular and Cellular Endocrinology, 2014

Alterations of MEN1 and E-cadherin/β-catenin complex in sporadic pulmonary carcinoids.

Veschi S et al.

International Journal of Oncology, 2012

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

Lemos MC et al.

Human Mutation, 2008

Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

Karges W et al.

The Journal of Endocrinology, 2000

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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."