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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862529, NSRP1
(M1T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
LOC126862529, NSRP1
(P4R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
NSRP1
(D273E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
GUncertain significance
LOC126862529, NSRP1
(P4S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC126862529, MIR423
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
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