Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L414Q
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MEN1

NM_001370259.2:p.L414Q

Associated Papers

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

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

Ellard S et al.

Clinical Endocrinology, 2005

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