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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIBF1
(I640F +1 more)
Single nucleotide variant
(missense variant +1 more)
Dandy-Walker syndrome
+2 more
GPathogenic/Likely pathogenic
PIBF1
(Y503C +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 33
GLikely pathogenic