Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.C1367R
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NF1

NM_001042492.3:p.C1367R

Associated Papers

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.

Chen J et al.

Journal of Molecular Neuroscience : Mn, 2024

39373898 (PubMed )
Supplement: 12031_2024_2271_MOESM1_ESM.docx

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.

Martorana D et al.

European Journal of Medical Genetics, 2023

Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers.

Sun Z et al.

Bmc Medical Genomics, 2014

24894543 (PubMed )
Supplement: 1755-8794-7-32-S4.xls › Sheet1

Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk of bone and soft tissue sarcomas in Japan.

Nakayama R et al.

Cancer Science, 2008

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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."