Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.L513R
Back to variants list

NOD2

NM_001370466.1:p.L513R

Associated Papers

Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome.

Punzi L et al.

Best Practice & Research. Clinical Rheumatology, 2011

Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation.

Jimenez-Martinez MC et al.

International Journal of Immunogenetics, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."