Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L414del1
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MEN1

NM_001370259.2:p.L414del1

Associated Papers

Whole-exome sequencing as a tool for searching for genetic background modifiers in MEN1 patients with neuroendocrine pancreatic tumours, including insulinomas.

Skalniak A et al.

Endokrynologia Polska, 2023

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

Shimazu S et al.

Cancer Science, 2011

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Simonds WF et al.

Medicine, 2002

Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?

Miedlich S et al.

European Journal of Endocrinology, 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Expression of menin in parathyroid tumors.

Bhuiyan MM et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.

Kassem M et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

Sato M et al.

Journal of Medical 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."