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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTC1
(L1007fs)
Deletion
(frameshift variant +1 more)
Coats plus syndrome
+3 more
GPathogenic
CTC1
(D405fs)
Deletion
(frameshift variant +1 more)
Coats plus syndrome
+1 more
GPathogenic
CTC1
(C985del)
Microsatellite
(inframe_deletion +1 more)
Coats plus syndrome
+2 more
GPathogenic
CTC1
(P944fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic
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