Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.V14M
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PTPN11

NM_002834.5:p.V14M

Associated Papers

Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.

Jiang Z et al.

Nature Communications, 2025

40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › COSMIC_annotated

Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.

Jiang Z et al.

Biorxiv : the Preprint Server for Biology, 2024

39091798 (PubMed )
Supplement: media-3.xlsx › SHP2-FL_cSrc-KD_column

RASopathy in Patients With Isolated Sagittal Synostosis.

Davis AA et al.

Global Pediatric Health, 2019

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

van Trier DC et al.

European Journal of Pediatrics, 2018

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.

Lo FS et al.

European Journal of Pediatrics, 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."