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
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.
Lin L et al.
Prenatal Diagnosis, 2024
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A et al.
Genes, 2023
Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome.
Gasparotto D et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
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