ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J. LandrumJennifer M. LeeMark BensonGarth R. BrownChen ChaoShanmuga ChitipirallaBaoshan GuJennifer HartDouglas HoffmanJeffrey HooverWonhee JangKenneth S. KatzMichael OvetskyGeorge R. RileyAmanjeev SethiRay E. TullyRicardo Villamarín-SalomónWendy S. RubinsteinDonna R. MaglottPublished in: Nucleic Acids Res. (2016)