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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P3H1
(Q181*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta
GPathogenic
COL1A1
(C40*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type I
+1 more
GPathogenic