Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S543L
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MEN1

NM_001370259.2:p.S543L

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

Deletion of chromosome 1, but not mutation of MEN-1, predicts prognosis in sporadic pancreatic endocrine tumors.

Guo SS et al.

World Journal of Surgery, 2002

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

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Genotype/phenotype correlation of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas.

Goebel SU et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 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."