A novel missense mutation inSCYL1BP1produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32996/fullpdf
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