Mikrotsefaalia paneeli
mittekodeerivad geneetilised variandid
Geen | Muutus |
ASPM | c.2761-25A>G |
ATR | c.6897+464C>G |
CDK5RAP2 | c.4005-15A>G |
CEP152 | c.2148-17G>A |
DONSON | c.786-22A>G |
ERCC6 | c.1397+7751G>A |
EXOSC3 | c.475-12A>G |
NCAPD3 | c.382+14A>G |
PNKP | c.1387-33_1386+49delCCTCCTCCCCTGACCCC |
POMT1 | c.-30-2A>G |
RBBP8 | c.2287+53T>G |
XRCC4 | c.-10-1G>T |