August 22, 2018Open Access

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing

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Abstract

Population whole-genome sequencing suggests a higher than expected prevalence of ADPKD-associated mutations. Loss-of-function mutations in ADPLD genes are also more common than expected, suggesting the possibility of unrecognized cases and incomplete penetrance. Substantial rare variation exists in genes with potential for phenotype modification in ADPKD.

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Lanktree et al. (Wed,) studied this question.

synapsesocial.com/papers/69e08c5faf805784e5557683 https://doi.org/https://doi.org/10.1681/asn.2018050493

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