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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF14
(R116fs +8 more)
Duplication
(frameshift variant)
Cleft palate
+17 more
GLikely pathogenic
NSD1
(W1280* +4 more)
Single nucleotide variant
(nonsense)
See cases
+19 more
GPathogenic