Associated Papers
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 2025
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.
Bonetti E et al.
Human Genomics, 2025
40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1
NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.
Ramakrishnan G et al.
Cell Reports, 2022
36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-KRAS
Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer.
Kahraman Çetin N et al.
Balkan Medical Journal, 2021
Mutation Analysis of KRAS and BRAF Genes in Metastatic Colorectal Cancer: a First Large Scale Study from Iran.
Koochak A et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2016
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
Gripp KW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Niihori T et al.
Journal of Human Genetics, 2011
Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.
Zhang H et al.
Biochemical Genetics, 2009
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
Estep AL et al.
American Journal of Medical Genetics. Part A, 2006
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