Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E191*
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MEN1

NM_001370259.2:p.E191*

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

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

Ellard S et al.

Clinical Endocrinology, 2005

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

Cardinal JW et al.

Journal of Medical Genetics, 2005

Adrenal involvement in multiple endocrine neoplasia type 1.

Langer P et al.

World Journal of Surgery, 2002

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

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

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

Bassett JH et al.

American Journal of Human Genetics, 1998

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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."