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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNPTAB
(L1168fs)
Microsatellite
(frameshift variant)
Pseudo-Hurler polydystrophy
+4 more
GPathogenic
GNPTAB
Deletion
(intron variant)
Mucolipidosis type II
GLikely pathogenic