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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT5
(G309E)
Single nucleotide variant
(missense variant)
Keloid formation
GBenign
ASAH1
(L401P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Inversion
Hypertelorism
+20 more
GPathogenic
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