Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L103delFs
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MEN1

NM_001370259.2:p.L103delFs

Associated Papers

Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.

Sukrithan V et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2025

40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf

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 and molecular characterization of parathyroid carcinoma in multiple endocrine neoplasia type 1.

Lomelino Pinheiro S et al.

Endocrine Connections, 2023

Expressions of Cushing's syndrome in multiple endocrine neoplasia type 1.

Simonds WF

Frontiers in Endocrinology, 2023

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt JM et al.

Bmc Medicine, 2022

Two distinct classes of thymic tumors in patients with MEN1 show LOH at the MEN1 locus.

Mandl A et al.

Endocrine-related Cancer, 2021

ONCOGENE PANEL SEQUENCING ANALYSIS IDENTIFIES CANDIDATE ACTIONABLE GENES IN ADVANCED WELL-DIFFERENTIATED GASTROENTEROPANCREATIC NEUROENDOCRINE TUMORS.

Tirosh A et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019

Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.

Makri A et al.

Clinical Endocrinology, 2018

Gonadotroph tumor associated with multiple endocrine neoplasia type 1.

Benito M et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1).

Lairmore TC et al.

Annals of Surgery, 2004

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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."