A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

“…Indeed, although using specific tools (e.g., SIFT, Polyphen2) for filtering variants is an efficient method for proposing candidates from large amounts of data, they have been related to false negative results. We have used this methodology in two previous studies, one of which led a first description of functional mutations in ATG (autophagy) genes leading to POI (Carlosama et al., , Delcour et al., ).…”