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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRIP, ATRIP-TREX1
+1 more
(D18N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+3 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(D200N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GPathogenic