Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.E498G
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NOD2

NM_022162.3:p.E498G

Associated Papers

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.

Yao F et al.

Frontiers in Pediatrics, 2023

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.

Rodrigues FG et al.

Ophthalmic Genetics, 2021

Expanding the Cutaneous Presentation of Blau Syndrome, Response to Treatment, and Correlation With Genetics.

Mohandesi NA et al.

Pediatric Dermatology, 0

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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."