Associated Papers
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril C et al.
Human Mutation, 2021
Next-generation sequencing-based identification of EGFR and NOTCH2 complementary mutations in non-small cell lung cancer.
Niu L et al.
Oncology Letters, 2021
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH et al.
Journal of Biomedical Science, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.
Park VM et al.
Journal of Medical Genetics, 1998
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Messiaen LM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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