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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR74
Single nucleotide variant
(5 prime UTR variant)
Neurodevelopmental disorder with seizures and brain abnormalities
GUncertain significance
CLCN3
(K112fs +1 more)
Microsatellite
(frameshift variant)
Neurodevelopmental disorder with seizures and brain abnormalities
+1 more
GPathogenic