RS34002892 GNPTAB
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What This Variant Does
"[OMIM:N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS
Associated Conditions
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Inborn genetic diseases
GNPTAB-related disorder
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Inborn genetic diseases
GNPTAB-related disorder
Other Variants in GNPTAB