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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNNB1, LOC126806658
(R95* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+9 more
GPathogenic
LOC126806658, CTNNB1
Single nucleotide variant
(splice donor variant)
Severe intellectual disability-progressive spastic diplegia syndrome
GPathogenic