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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PURA
(L75R)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GPathogenic
PURA
(D76A)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GLikely pathogenic
PURA
(P178fs)
Deletion
(frameshift variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+2 more
GPathogenic
PURA
(F271del)
Deletion
(inframe_deletion)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+1 more
GPathogenic
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