Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.T22A
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PTPN11

NM_002834.5:p.T22A

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 › ClinVar_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

Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.

Stagi S et al.

Frontiers in Endocrinology, 2022

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.

Lodi M et al.

Diagnostics (basel, Switzerland), 2020

Occurrence of high-grade glioma in Noonan syndrome: Report of two cases.

El-Ayadi M et al.

Pediatric Blood & Cancer, 2019

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Jongmans MC et al.

European Journal of Human Genetics : Ejhg, 2011

Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature.

Sherman CB et al.

Journal of Pediatric Hematology/oncology, 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."