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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
(A403V)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GPathogenic
LOC126861615, PAH
(A300S)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(T278N)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
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