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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXOSC3
(D132A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
EXOSC3
(V80F)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
EXOSC3
(G31A)
Single nucleotide variant
(missense variant)
Severe intrauterine growth retardation
+8 more
GPathogenic/Likely pathogenic
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