Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E179D
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MEN1

NM_001370259.2:p.E179D

Associated Papers

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

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

Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

Pieterman CR et al.

Annals of Surgery, 2012

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

Poncin J et al.

Human Mutation, 1999

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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."