Article

A new murine <i>Rpl5</i> ( <i>uL18</i> ) mutation provides a unique model of variably penetrant Diamond Blackfan Anemia

2021-02-28

Abstract excerpt

Ribosome dysfunction is implicated in multiple abnormal developmental and disease states in humans. Heterozygous germline mutations in genes encoding ribosomal proteins (RPs) are found in the majority of individuals with Diamond Blackfan anemia (DBA) while somatic mutations have been implicated in a variety of cancers and other disorders. Ribosomal protein-deficient animal models show variable phenotypes and penet...

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Literature Corpus work: 8ebb04db-4387-5cd3-b1e3-de35b58a4bfc
DOI: 10.1101/2021.02.27.430069

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