Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Y227*
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MEN1

NM_001370259.2:p.Y227*

Associated Papers

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Kim B et al.

Endocrinology and Metabolism (seoul, Korea), 2024

39552147 (PubMed )
Supplement: enm-2024-2008-Supplemental-Table-S1.pdf

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

Jellins T et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Two nonsense somatic mutations in MEN1 identified in sporadic insulinomas.

Qi C et al.

Febs Open Bio, 2018

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

Tham E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Screening for MEN1 mutations in patients with atypical endocrine neoplasia.

Dackiw AP et al.

Surgery, 1999

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

Teh BT et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. Online.

Cote GJ et al.

Human Mutation, 1998

An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular diagnosis, treatment and follow up.

Shah SR et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 0

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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."