Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G419D
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MEN1

NM_001370259.2:p.G419D

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

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Caswell RC et al.

Genome Medicine, 2022

35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.

Caswell RC et al.

Journal of the Endocrine Society, 2019

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