GenomicsNature CommunicationsPeer-reviewed
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
Konstantinos Nikopoulos, Katarina Vizar Cisarova, Mathieu Quinodoz…·Carlo Rivolta
The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.
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