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disease
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MDDGB3 (Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3; 筋ジストロフィー-ジストログリカン症 (先天性, 精神遅滞), B型3)
JCEG ID
Family
Name
Locus Tag
Human Ortholog Name
OMIM
GWAS Catalog
JCEG086
*
=
GlcNAcT(GnT)
M70.4
POMGNT1
300492
608617
608618
608619
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