Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q536*
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MEN1

NM_001370259.2:p.Q536*

Associated Papers

From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.

Piazzola C et al.

Pituitary, 2025

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.

Kong J et al.

Plos One, 2016

Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.

Scarpelli D et al.

Journal of Endocrinological Investigation, 2004

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

Vergès B et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

Giraud S 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."