Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome
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DOI: 10.1002/mgg3.521
Abstract: Bardet‐Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of… read more here.
Keywords: insertion novel; bardet biedl; novel mutational; biedl syndrome ... See more keywords