Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R229C
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MEN1

NM_001370259.2:p.R229C

Associated Papers

Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini-associated cholangiocarcinoma.

Sitthirak S et al.

Scientific Reports, 2025

40157958 (PubMed )
Supplement: 41598_2025_95142_MOESM17_ESM.xlsx › Sheet1

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD

Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations.

Pillai S et al.

Experimental and Molecular Pathology, 2017

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Howell VM et al.

The Journal of Molecular Diagnostics : Jmd, 2006

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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."