Varaico: Literature-Extracted Genetic Variants

Gene:CCNP
Variant:p.S30N
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CCNP

NM_024877.4:p.S30N

Associated Papers

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.

Schwerd T et al.

Mucosal Immunology, 2018

29091079 (PubMed )
Supplement: NIHMS895460-supplement-supplement_1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
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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."