Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.H325R
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NOD2

NM_001370466.1:p.H325R

Associated Papers

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling.

de Oliveira ASLE et al.

Biomolecules, 2022

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Weiss K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28640243 (PubMed )
Supplement: gim201768x1.xlsx › All

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.

Hugot JP et al.

Nature, 2001

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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."