Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Human Mutation, EarlyView.

Source: Human Mutation - September 7, 2018 Category: Genetics & Stem Cells Authors: Ahmad N.Abou Tayoun , TinaPesaran , Marina T.DiStefano , AndreaOza , Heidi L.Rehm , Leslie G.Biesecker , Steven M.Harrison , Source Type: research