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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL7
(R351* +1 more)
Single nucleotide variant
(nonsense +1 more)
PERCHING syndrome
+2 more
GPathogenic
KLHL7
(H375R +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental delay
GPathogenic