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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPO2
(L119P +2 more)
Single nucleotide variant
(missense variant)
Tetraamelia syndrome 2
+2 more
GBenign
RSPO2
Duplication
(intron variant)
Humerofemoral hypoplasia with radiotibial ray deficiency
+2 more
GBenign
RSPO2
(R69C +1 more)
Single nucleotide variant
(missense variant +1 more)
Humerofemoral hypoplasia with radiotibial ray deficiency
GPathogenic
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