Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
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DOI: 10.1002/humu.23605
Abstract: Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu‐Alu fusion events, in… read more here.
Keywords: ift81 protein; alu; duplication; alu alu ... See more keywords