GENETIC ENCYCLOPEDIA
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disease: Total intestinal aganglionosis

id93
nameTotal intestinal aganglionosis
variant-disease NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) AND multiple conditions
NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) AND multiple conditions