Associated Papers
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.
Bonetti E et al.
Human Genomics, 2025
40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1
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
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
30355600 (PubMed )
Supplement: supp_gr.239186.118_Supplemental_File.pdf
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
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