Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
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Hum Genet. 2020 Nov;139(11):1443-1454. doi: 10.1007/s00439-020-02188-6. Epub 2020 Jun 8.
Hum Genet. 2020.
PMID: 32514796
Free PMC article.