Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L168P
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MEN1

NM_001370259.2:p.L168P

Associated Papers

Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.

Jiang X et al.

World Journal of Surgical Oncology, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Continuous_TISF_monitoring

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

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature.

Breil T et al.

Hormone Research in Paediatrics, 2018

Is Routine Screening of Young Asymptomatic MEN1 Patients Necessary?

Manoharan J et al.

World Journal of Surgery, 2017

Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1).

Giusti F et al.

Endocrine, 2016

Enucleation and limited pancreatic resection provide long-term cure for insulinoma in multiple endocrine neoplasia type 1.

Bartsch DK et al.

Neuroendocrinology, 2013

Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening.

Waldmann J et al.

Langenbeck's Archives of Surgery, 2007

Adrenal involvement in multiple endocrine neoplasia type 1.

Langer P 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

Predictive genetic screening and clinical findings in multiple endocrine neoplasia type I families.

Kopp I et al.

World Journal of Surgery, 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Pancreaticoduodenal endocrine tumors in multiple endocrine neoplasia type 1: surgery or surveillance?

Bartsch DK et al.

Surgery, 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."