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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCOR
(T1531A +2 more)
Single nucleotide variant
(missense variant)
Congenital cerebellar hypoplasia
+4 more
GUncertain significance
FGFR2
(S347C +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+25 more
GPathogenic/Likely pathogenic