Article

Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare mendelian disorder

2020-10-23

Abstract excerpt

<h4>ABSTRACT</h4> Non-canonical intronic variants are a poorly characterized yet highly prevalent class of alterations associated with Mendelian disorders. Here, we report the first RNA expression and splicing analysis from a family whose members carry a non-canonical splice variant in an intron of RPL11 (c.396+3A>G). This mutation is causative for Diamond Blackfan Anemia (DBA) in this family despite incomplete...

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Literature Corpus work: 43a71b37-3706-5b46-9ee5-467ebbb6986b
DOI: 10.1101/2020.10.22.350884

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