Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.S499F
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PTPN11

NM_002834.5:p.S499F

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-6.xlsx › ClinVar_annotated

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2

BMX kinase mediates gilteritinib resistance in FLT3-mutated AML through microenvironmental factors.

Buelow DR et al.

Blood Advances, 2022

35797240 (PubMed )
Supplement: advancesADV2022007952-suppl2.xlsx › Suppl_table_7

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Noonan syndrome on the African Continent.

Tekendo-Ngongang C et al.

Birth Defects Research, 2020

Noonan Syndrome in South Africa: Clinical and Molecular Profiles.

Tekendo-Ngongang C et al.

Frontiers in Genetics, 2019

Mutational Analysis of BRAF Inhibitor-Associated Squamoproliferative Lesions.

Clynick B et al.

The Journal of Molecular Diagnostics : Jmd, 2015

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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."