Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W220R
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MEN1

NM_001370259.2:p.W220R

Associated Papers

Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors.

Faggiano A et al.

Genes, 2023

Multiple Metastases of Parathyroid and Papillary Thyroid Carcinoma in a Female Patient Treated with Long-Term Hemodialysis.

Krupinova J et al.

Journal of Personalized Medicine, 2023

[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene].

Pylina SV et al.

Problemy Endokrinologii, 2023

Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes.

Shariq OA et al.

Surgery, 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

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Marini F et al.

Endocrine, 2018

When Parathyroidectomy Should Be Indicated or Postponed in Adolescents With MEN1-Related Primary Hyperparathyroidism.

Marini F et al.

Frontiers in Endocrinology, 2018

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.

Mamedova E et al.

Endocrine Connections, 2017

[TYPE 1 MULTIPLE ENDOCRINE NEOPLASIA SYNDROME AND FAMILIAL ISOLATED HYPERPARATHYROIDISM].

Mamedova EO et al.

Klinicheskaia Meditsina, 2015

[Multiple Endocrine Neoplasia I (Wermers Syndrome), Forms of Clinical Manifestation, 5 Case Studies].

Drbalová K et al.

Vnitrni Lekarstvi, 0

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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."