Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.T2S
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PTPN11

NM_002834.5:p.T2S

Associated Papers

Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review.

Dalla-Torre R et al.

Frontiers in Medicine, 2021

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

Carapito R et al.

Journal of Human Genetics, 2014

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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."