We report a patient with adult-onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of and a heterozygous mutation. We suggest that the mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389502 | PMC |
| http://dx.doi.org/10.1002/ccr3.1947 | DOI Listing |
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