Associated Papers
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 2024
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.
Jang W et al.
International Journal of Genomics, 2022
36275637 (PubMed )
Supplement: 5265686.f1.docx
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
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Hutter S et al.
Human Genetics, 2016
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
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Nemethova M et al.
Annals of Human Genetics, 2013
Germline and somatic NF1 gene mutations in plexiform neurofibromas.
Upadhyaya M et al.
Human Mutation, 2008
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