Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.D61E
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PTPN11

NM_002834.5:p.D61E

Associated Papers

SFX-01 is therapeutic against myeloproliferative disorders caused by activating mutations in Shp2.

Cho HJ et al.

Embo Molecular Medicine, 2025

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.

Eboreime J et al.

Human Mutation, 2022

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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."