Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.V14I
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NF1

NM_001042492.3:p.V14I

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

Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape.

Ratnasinghe BD et al.

Biorxiv : the Preprint Server for Biology, 2023

Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape.

Ratnasinghe BD et al.

Computational and Structural Biotechnology Journal, 2023

Development of Noonan syndrome by deregulation of allosteric SOS autoactivation.

Umutesi HG et al.

The Journal of Biological Chemistry, 2020

Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.

Mack PC et al.

Cancer, 2020

RASopathy in Patients With Isolated Sagittal Synostosis.

Davis AA et al.

Global Pediatric Health, 2019

Noonan syndrome: lessons learned from genetically modified mouse models.

Schuhmacher AJ et al.

Expert Review of Endocrinology & Metabolism, 2017

The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).

Hernández-Porras I et al.

Rare Diseases (austin, Tex.), 2015

RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A.

Ahlquist T et al.

Neoplasia (new York, N.y.), 2008

Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options.

Niemeyer CM et al.

British Journal of Haematology, 2008

Germline KRAS mutations cause Noonan syndrome.

Schubbert S et al.

Nature Genetics, 2006

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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."