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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease citrullinemia type ii
Symptom C0008372|intrahepatic cholestasis
Sentences 2
PubMedID- 20927635 Background: slc25a13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (niccd).
PubMedID- 21161389 Neonatal intrahepatic cholestasis associated with citrin deficiency (niccd): a case series of 11 malaysian patients.

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