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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSK
(Q438*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, type 10
GUncertain significance
ARSK
(Y417*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, type 10
GPathogenic
ARSK
(L187*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, type 10
GPathogenic
ARSK
(R84C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, type 10
GPathogenic
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