Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R516fs
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MEN1

NM_001370259.2:p.R516fs

Associated Papers

Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.

Checri R et al.

Revue Neurologique, 2025

48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.

Chen Y et al.

Journal of Endocrinological Investigation, 2025

Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.

Lanzaro F et al.

Journal of Clinical Medicine, 2024

Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance.

Carsote M et al.

International Journal of Molecular Sciences, 2024

Traits of Patients With Pituitary Tumors in Multiple Endocrine Neoplasia Type 1 and Comparing Different Mutation Status.

Lin KY et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

[Primary hyperparathyroidism in children].

Benina AR et al.

Problemy Endokrinologii, 2023

Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.

Jellins T et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.

Lagarde A et al.

Endocrine Connections, 2022

Thymic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1.

Yliaska I et al.

Endocrine, 2022

A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report.

Cho YY et al.

Medicine, 2021

Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients.

Hu WM et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

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

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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."