Molekulargenetik

Erkrankungen Gene

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Anforderungsbeleg

AFB Molekulargenetik

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Rasopathie

AKT3, CBL, HRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PIK3CA, PIK3R2, PPP1CB, RASA1, RASA2, RRAS, SHOC2, SOS2, SPRED1

Rett Syndrom

CDKL5, FOXG1, MECP2

Rett Syndrom und Rett Syndrom-ähnliche Erkrankungen

ARX, CDKL5, FOXG1, GABBR2, IQSEC2, MECP2, MEF2C, STXBP1, TCF4, UBE3A, ZEB2

Rhizomele Dysplasie

COL11A1, COL11A2, COMP, FGFR3, GPC6, PEX7, RMRP, SLC26A2, WNT5A