Database of Pathogenic Variants

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Disease Detail

Disease Name

Glycogen storage disease 3
OMIM:232400
Orphanet:366
MedGen:C0017922
MedGen:C1968739
MedGen:C1968740
MedGen:C1968741
MedGen:C1968742

Associated Genes and Variants

AGL	NM_000028.2:c.2813-2A>C NM_000028.2:c.3808A>T

This database is funded by the Japan Agency for Medical Research and Development (AMED).