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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBIP1
(A89V +2 more)
Single nucleotide variant
(missense variant +2 more)
Obesity
+9 more
GPathogenic
GNAS
(Q29*)
Single nucleotide variant
(intron variant +1 more)
Cushing syndrome
+16 more
GPathogenic
Translocation
Round face
+8 more
GPathogenic
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