Varaico: Literature-Extracted Genetic Variants

Gene:RIPK2
Variant:p.S204S
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RIPK2

NM_003821.6:p.S204S

Associated Papers

Structural localization of pathogenic mutations in the central nucleotide-binding domain (NBD) of nucleotide-binding oligomerization domain-2 (NOD2) protein and their inference in inflammatory disorders.

P R et al.

Nucleosides, Nucleotides & Nucleic Acids, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316

[Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations].

Kanazawa N

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2007

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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."