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Links from Gene

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADPRS
(M81K)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
GUncertain significance
ADPRS
(A80S)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
GUncertain significance
ADPRS
(L58fs)
Microsatellite
(frameshift variant)
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
GLikely pathogenic
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