Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.V490I
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PTPN11

NM_002834.5:p.V490I

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 › Clinical_Variants

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-6.xlsx › Clinical_Variants

Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.

Nielsen SK et al.

Jacc. Advances, 2023

38938358 (PubMed )
Supplement: mmc1.docx

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S6.xlsx › High_Confidence_SNVs

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Hamblin A et al.

Plos Medicine, 2017

28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Colorectal_Carcinoma

Targeted next generation sequencing of parotid gland cancer uncovers genetic heterogeneity.

Grünewald I et al.

Oncotarget, 2015

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