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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPCA
(G172R)
Single nucleotide variant
(missense variant)
Torsion dystonia 2
GUncertain significance
HPCA
(A190T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HPCA
(T71N)
Single nucleotide variant
(missense variant)
Torsion dystonia 2
GPathogenic
HPCA
(N75K)
Single nucleotide variant
(missense variant)
Torsion dystonia 2
GPathogenic
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