Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W423*
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MEN1

NM_001370259.2:p.W423*

Associated Papers

Integrated treatment guided by RNA-seq-based endometrial receptivity assessment for infertility complicated by MEN1.

Huang X et al.

Frontiers in Endocrinology, 2023

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

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA et al.

European Journal of Endocrinology, 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

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Howell VM et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Characteristics of the Danish families with multiple endocrine neoplasia type 1.

Jäger AC et al.

Molecular and Cellular Endocrinology, 2006

Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention.

Lim LC et al.

Journal of Internal Medicine, 2006

Multiple endocrine neoplasia type I and Cushing's syndrome due to an aggressive ACTH producing thymic carcinoid.

Takagi J et al.

Internal Medicine (tokyo, Japan), 2006

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

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Identification of MEN1 gene mutations in families with MEN 1 and related disorders.

Bergman L et al.

British Journal of Cancer, 2000

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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."