Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.E139E
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PTPN11

NM_002834.5:p.E139E

Associated Papers

Mutation analysis of PTPN11 in Noonan syndrome by WAVE.

Elanko N et al.

Methods in Molecular Medicine, 2006

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Musante L et al.

European Journal of Human Genetics : Ejhg, 2003

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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."