Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L194R
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NF1

NM_001042492.3:p.L194R

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing.

Kleftogiannis D et al.

Scientific Reports, 2020

Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts.

Zhang G et al.

Annals of Translational Medicine, 2019

TP53 alterations in Wilms tumour represent progression events with strong intratumour heterogeneity that are closely linked but not limited to anaplasia.

Wegert J et al.

The Journal of Pathology. Clinical Research, 2017

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV et al.

Genome Medicine, 2016

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

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

23298314 (PubMed )
Supplement: pr301007j_si_005.pdf

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Nyström AM et al.

Clinical Genetics, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A et al.

American 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."