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A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

Crossref DOI link: https://doi.org/10.1038/s10038-018-0550-8

Published Online: 2019-01-07

Published Print: 2019-03

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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