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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
Deletion
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Q723*)
Single nucleotide variant
(nonsense)
DE SANCTIS-CACCHIONE SYNDROME
+10 more
GPathogenic/Likely pathogenic