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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(A320P +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+5 more
GPathogenic/Likely pathogenic
ATP1A3
(E815K +2 more)
Single nucleotide variant
(missense variant)
Global developmental delay
+13 more
GPathogenic
ATP1A3
(D801N +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+5 more
GPathogenic
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