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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1, LOC113839516
(P117fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy 31B
GPathogenic
DNM1
(Q284*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy 31B
GPathogenic
CIZ1, DNM1
(Q33*)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy 31B
GPathogenic
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