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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGTPBP1
Deletion
(nonsense)
AGTPBP1-related disorder
GPathogenic
AGTPBP1
Single nucleotide variant
(splice acceptor variant)
AGTPBP1-related disorder
GPathogenic