Louise Bicknell
@bicknell_l
Gene hunter for rare disorders. Mum. Gardener. Associate Professor. Co-Director of @GeneticsOtago
ID: 909882908
http://www.raredisordergenetics.com 28-10-2012 09:11:54
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Latest paper from the lab, where we report CDC45 variants that cause exon skipping, including a synonymous one! We thank the families and clinicians who were involved, and are so happy we can give answers to more families. Genetics Otago Otago Biochemistry nature.com/articles/s4143…