Articles with "ift81 protein" as a keyword



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Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

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Published in 2018 at "Human Mutation"

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