Associated Papers
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.
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Human Genomics, 2025
40887659 (PubMed )
Supplement: 40246_2025_803_MOESM2_ESM.xlsx › Sheet_1
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
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Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
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