Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.H85H
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PTPN11

NM_002834.5:p.H85H

Associated Papers

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M et al.

American Journal of Human Genetics, 2002

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

Limongelli G et al.

European Journal of Medical Genetics, 0

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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."