Associated Papers
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L et al.
Journal of Medical Genetics, 2025
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Kang E et al.
Orphanet Journal of Rare Diseases, 2022
Insights into amyotrophic lateral sclerosis linked Pro525Arg mutation in the fused in sarcoma protein through in silico analysis and molecular dynamics simulation.
Chatterjee S et al.
Journal of Biomolecular Structure & Dynamics, 2021
The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study.
Agrahari AK et al.
Heliyon, 2019
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
Frayling IM et al.
Journal of Medical Genetics, 2019
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha P et al.
Metabolic Brain Disease, 2018
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.
Agrahari AK et al.
Metabolic Brain Disease, 2018
Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.
Fu Y et al.
The Journal of Dermatology, 2018
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Stella A et al.
Genes, 2018
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
Computational identification and analysis of deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the human POR gene: a structural and functional impact.
Kumar R et al.
Journal of Biomolecular Structure & Dynamics, 0
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