Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R289S
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PTPN11

NM_002834.5:p.R289S

Associated Papers

Clinical and molecular analysis of seventy-one fetal cases with RASopathies.

Yu QX et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025

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-4.xlsx › SHP2-PTP_cSrc-KD_column

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.

Wang Y et al.

Genes, 2023

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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."