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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFEMP1
(R401*)
Single nucleotide variant
(nonsense)
Cutis laxa
GPathogenic
LOX, SRFBP1
(T111P +2 more)
Single nucleotide variant
(missense variant)
Generalized arterial tortuosity
+1 more
GLikely pathogenic