Associated Papers
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.
Bonniaud B et al.
European Journal of Medical Genetics, 2025
mTOR Variants Activation Discovers PI3K-like Cryptic Pocket, Expanding Allosteric, Mutant-Selective Inhibitor Designs.
Liu Y et al.
Journal of Chemical Information and Modeling, 2025
39792006 (PubMed )
Supplement: ci4c02022_si_002.xlsx › Sheet1
Virtual Screening of Different Subclasses of Lignans with Anticancer Potential and Based on Genetic Profile.
Maia MDS et al.
Molecules (basel, Switzerland), 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Germline and sporadic mTOR pathway mutations in low-grade oncocytic tumor of the kidney.
Kapur P et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.
Gao J et al.
Frontiers in Oncology, 2021
33996539 (PubMed )
Supplement: DataSheet_8.xlsx › Table_S3
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5
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