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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAT1
(D100A)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
Duplication
(intron variant)
PSAT1-related disorder
+2 more
GConflicting classifications of pathogenicity