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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease autosomal recessive polycystic kidney disease
Comorbidity C0022679|cystic kidney
Sentences 1
PubMedID- 22563501 Mutations in polr1c were recently shown to cause treacher collins syndrome [2] and pkhd1 mutations are associated with polycystic kidney and hepatic disease [3] and were thus excluded as candidate genes for pd.

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