Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.C93W
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NF1

NM_001042492.3:p.C93W

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

Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.

Hu D et al.

Cancer Science, 2022

35661486 (PubMed )
Supplement: CAS-113-2849-s010.xlsx › Sheet1

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Nemethova M et al.

Annals of Human Genetics, 2013

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM et al.

Pediatric Neurology, 2013

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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."