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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC1, ABCC6
+8 more
Copy number loss
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Gnot provided
ABCC6, ABCC1
+8 more
Deletion
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Gnot provided