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
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.
Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.
Qian H et al.
Frontiers in Genetics, 2022
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
Yao R et al.
Genes, 2019
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