GENETIC ENCYCLOPEDIA
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disease: Acanthosis nigricans

id169
nameAcanthosis nigricans
variant-disease NM_000142.4(FGFR3):c.1943A>C (p.Tyr648Ser) AND Acanthosis nigricans
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) AND Acanthosis nigricans
46;Y;inv(X)(q27q28) AND multiple conditions
NM_001290018.1(PRMT7):c.322G>T (p.Glu108Ter) AND multiple conditions
NM_001290018.1(PRMT7):c.1713C>A (p.Cys571Ter) AND multiple conditions