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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSEN54
(A307S +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
GLikely pathogenic
TSEN54
(A307S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 4
+14 more
GPathogenic/Likely pathogenic