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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAN
(T2179fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ACAN
(T2253fs)
Deletion
(frameshift variant)
Short stature-advanced bone age-early-onset osteoarthritis syndrome
GPathogenic