Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L249P
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MEN1

NM_001370259.2:p.L249P

Associated Papers

Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients.

Marini F et al.

Orphanet Journal of Rare Diseases, 2018

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

Marini F et al.

Endocrine, 2018

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors.

Vannucci L 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

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

Giusti F et al.

Endocrine, 2016

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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."