GENETIC ENCYCLOPEDIA
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disease: Total intestinal aganglionosis

id93
nameTotal intestinal aganglionosis
variant-disease NM_001201397.1(EDNRB):c.823G>A (p.Val275Met) AND multiple conditions
NM_001201397.1(EDNRB):c.1283C>T (p.Pro428Leu) AND multiple conditions