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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
GPathogenic
UQCRC2, VWA3A
+9 more
Copy number loss
Abnormal foot morphology
+4 more
GPathogenic
DARS2
Single nucleotide variant
(splice donor variant)
CNS demyelination
+15 more
GPathogenic
DARS2
Indel
(intron variant)
CNS demyelination
+14 more
GPathogenic
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