Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q260P
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MEN1

NM_001370259.2:p.Q260P

Associated Papers

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

Cardoso L et al.

Human Mutation, 2017

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.

Pontikides N et al.

Journal of Bone and Mineral Metabolism, 2014

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

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.

Lemos MC et al.

The Journal of Endocrinology, 2009

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

Pannett AA et al.

Clinical Endocrinology, 2003

Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.

Perrier ND et al.

World Journal of Surgery, 2002

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

Simonds WF et al.

Medicine, 2002

Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

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

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

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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."