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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(V784A)
Single nucleotide variant
(stop lost +2 more)
Thanatophoric dysplasia
GLikely pathogenic
FGFR3
(G370C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic
FGFR3
(K650E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
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