Comparative Analysis of Different International Criteria (ACMG-AMP vs. TENGEN) Applied to Classification of Missense Germline Allelic Variants in Patients With Multiple Endocrine Neoplasia Type 1 or Suspected to this Syndrome

Context: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic syndrome caused by germline pathogenic allele variants (PAV) in the MEN1 tumor suppressor gene, which predispose MEN1 carriers to the increased risk of several endocrine neoplasms throughout life. The MEN1 gene...

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Detalles Bibliográficos
Autores principales: Lugeiro, Palloma C, Urtremari, Betsaida, Santana, Lucas S, Quedas, Elisangela P S, Lourenco, Delmar Muniz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Tumor Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089322/
http://dx.doi.org/10.1210/jendso/bvab048.2074

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