Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R171_V173del0
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MEN1

NM_001370259.2:p.R171_V173del0

Associated Papers

A 14-yr-old boy with a pathogenic MEN1 variant was diagnosed with asymptomatic insulinoma during routine follow-up.

Yokoyama R et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025

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

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome-Related Skin Tumors.

Băicoianu-Nițescu LC et al.

Diagnostics (basel, Switzerland), 2022

Analysis of genotype-phenotype correlations and survival outcomes in patients with primary hyperparathyroidism caused by multiple endocrine neoplasia type 1: the experience at a single institution.

Horiuchi K et al.

Surgery Today, 2013

Facial angiofibroma as an initial manifestation in multiple endocrine neoplasia type 1.

Sakurai A et al.

Internal Medicine (tokyo, Japan), 2008

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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."