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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAPSS1
(R111*)
Single nucleotide variant
(nonsense)
PAPSS1-related condition
GUncertain significance
PAPSS1
(N96D)
Single nucleotide variant
(missense variant)
PAPSS1-related condition
GUncertain significance