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- CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN
Analyse Details:
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN
Testet das CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) Gen
 
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CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN
Test-Details
GenCTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1)
OMIM604927 604168
Tat-
Methode1 Mutation: IVS6, C-T, +389
PrenatalNo
Order#PGWD0506
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