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. 2020 Jan 22;21(3):721. doi: 10.3390/ijms21030721
NGS Next Generation Sequencing
DCG Disease-causing gene
ACMG American College of Medical Genetics
AMP Association for Molecular Pathology
VUS Variant of uncertain significance
NF1 Neurofibromatosis type 1
GAP GTPase activating protein
CI Variant with Conflicting Interpretation
LOVD Leiden Open Variation Database
HGMD Human Gene Mutation Database