Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.L525P
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PTPN11

NM_002834.5:p.L525P

Associated Papers

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Tartaglia M et al.

Annals of the New York Academy of Sciences, 2010

Noonan syndrome: clinical aspects and molecular pathogenesis.

Tartaglia M et al.

Molecular Syndromology, 2010

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A et al.

Human Mutation, 2009

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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."