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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCF4
(R576W +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GPathogenic
LOC126862757, TCF4
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic