Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.H469Y
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NOD2

NM_001370466.1:p.H469Y

Associated Papers

Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.

Baisya R et al.

Clinical Immunology (orlando, Fla.), 2023

Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome.

Punzi L et al.

Best Practice & Research. Clinical Rheumatology, 2011

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

Kanazawa N et al.

Blood, 2005

CARD15 mutations in Blau syndrome.

Miceli-Richard C et al.

Nature Genetics, 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."