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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(P283S)
Single nucleotide variant
(missense variant +1 more)
Lacrimoauriculodentodigital syndrome 2
GUncertain significance
FGFR3
(D628N +3 more)
Single nucleotide variant
(missense variant +1 more)
Lacrimoauriculodentodigital syndrome 2
GPathogenic
FGFR3
(D513N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
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