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#3416 MEN1 gene sequence variant C.[527 G> A] P.[ARG 176 GLN]: Is it pathogenic?

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome with a severe impact on quality of life of patients and their relatives and early diagnosis is mandatory. Many single-nucleotide polymorphisms of the MEN1 gene are reported, but only few are pathogenic.

Conference:

Presenting Author:

Authors: Zanata I, Crociara A, Ambrosio M, Bondanelli M, Aliberti L,

Keywords: MEN1, C.[527 G> A] P.[ARG 176 GLN], sequence variant,