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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
(F107del)
Microsatellite
(inframe_deletion +1 more)
Creatine transporter deficiency
GPathogenic
SLC6A8
(F408del +2 more)
Microsatellite
(inframe_deletion)
Creatine transporter deficiency
GPathogenic