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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Deletion
Creatine transporter deficiency
+1 more
GLikely pathogenic
Deletion
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
GLikely pathogenic
Deletion
Creatine transporter deficiency
+1 more
GLikely pathogenic
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