Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.R687S
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PLCG2

NM_002661.5:p.R687S

Associated Papers

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Bastarache L et al.

Science (new York, N.y.), 2018

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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."