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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992689, NUP54
(G6V)
Single nucleotide variant
(missense variant +1 more)
Dystonia 37, early-onset, with striatal lesions
GUncertain significance
NUP54
(E424K +1 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 37, early-onset, with striatal lesions
GPathogenic
NUP54
(Q423del +1 more)
Microsatellite
(inframe_deletion +1 more)
Dystonia 37, early-onset, with striatal lesions
GPathogenic
NUP54
(K376E +1 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 37, early-onset, with striatal lesions
GPathogenic
NUP54
(I358S +1 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 37, early-onset, with striatal lesions
GPathogenic
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