Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.M1I
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MEN1

NM_001370259.2:p.M1I

Associated Papers

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

Gheorghe AM et al.

International Journal of Molecular Sciences, 2024

Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time.

Parisien-La Salle S et al.

Clinical Endocrinology, 2022

Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1).

Canaff L et al.

The Journal of Biological Chemistry, 2012

Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.

Marsh DJ et al.

Expert Opinion on Medical Diagnostics, 2007

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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."