Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R415P
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MEN1

NM_001370259.2:p.R415P

Associated Papers

Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.

Dreijerink KMA et al.

Epigenetics & Chromatin, 2022

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

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."