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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSNK1E, TPTEP2-CSNK1E
(R178C)
Single nucleotide variant
(missense variant)
Seizure
+11 more
GUncertain significance
Inversion
Axial hypotonia
+8 more
GPathogenic