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disease: Chudley-McCullough syndrome

id912
nameChudley-McCullough syndrome
variant-disease NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) AND Chudley-McCullough syndrome
GPSM2, 1-BP DEL, 1473G AND Chudley-McCullough syndrome
NM_013296.5(GPSM2):c.1062+1G>T AND Chudley-McCullough syndrome
NM_013296.5(GPSM2):c.-248-1G>A AND Chudley-McCullough syndrome
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) AND Chudley-McCullough syndrome
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