Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.D477G
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PTPN11

NM_002834.5:p.D477G

Associated Papers

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Lepri F et al.

Human Mutation, 2011

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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."