Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W220L
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MEN1

NM_001370259.2:p.W220L

Associated Papers

Multiple Metastases of Parathyroid and Papillary Thyroid Carcinoma in a Female Patient Treated with Long-Term Hemodialysis.

Krupinova J et al.

Journal of Personalized Medicine, 2023

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

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Hannan FM et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2008

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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."