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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH1
(N502S)
Single nucleotide variant
(missense variant)
Megaloblastic anemia, folate-responsive
GUncertain significance
SLC19A1
(F172del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance