Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.F71I
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PTPN11

NM_002834.5:p.F71I

Associated Papers

Understanding Molecular Basis of PTPN11-Related Diseases.

Um S et al.

Arxiv, 2025

41479460 (PubMed )
Supplement: NIHPP2511.11860v1-supplement-1.pdf

Analysis of children with familial short stature: who should be indicated for genetic testing?

Plachy L et al.

Endocrine Connections, 2023

37561071 (PubMed )
Supplement: supplementary_table_2.pdf

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.

Eboreime J et al.

Human Mutation, 2022

Extraction of molecular features for the drug discovery targeting protein-protein interaction of Helicobacter pylori CagA and tumor suppressor protein ASSP2.

Junaid M et al.

Proteins, 2019

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.

Sakamoto K et al.

Journal of Pediatric Hematology/oncology, 2014

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

The role of Shp2 (PTPN11) in cancer.

Mohi MG et al.

Current Opinion in Genetics & Development, 2007

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T et al.

Journal of Human Genetics, 2005

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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."