Associated Papers
Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Srivastava P et al.
Heliyon, 2024
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.
Hazan F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Clinical and molecular characteristics of Chinese non-small cell lung cancer patients with ERBB2 transmembrane domain mutations.
Fan Y et al.
Molecular Oncology, 2020
32478891 (PubMed )
Supplement: MOL2-14-1731-s002.xlsx › Sheet1
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Stella A et al.
Genes, 2018
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
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-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
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