Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.A585T
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NOD2

NM_001370466.1:p.A585T

Associated Papers

A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.

Ripen AM et al.

Clinical and Experimental Immunology, 2021

Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis.

Milman N et al.

The Clinical Respiratory Journal, 2007

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

Hugot JP et al.

Nature, 2001

A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members.

Milman N et al.

Scandinavian Journal of Rheumatology, 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."