GeneticsbioRxivPreprint
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium
Gabrielle M. Rozumek, Michelle Lynn Brinkmeier, Bin Guan…·Lev Prasov
The paper identifies a hypomorphic MYRF variant causing partial loss of function in the RPE, with two novel splicing variants linked to isolated nanophthalmos.
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