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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUF60
(K205fs +9 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PUF60
(M117fs +9 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic