Biallelic variants in four genes underlying recessive osteogenesis imperfecta

Published 2020 View Full Article

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Title
Biallelic variants in four genes underlying recessive osteogenesis imperfecta
Authors
Keywords
Osteogenesis imperfecta, Whole exome sequencing, Sanger sequencing, Linkage analysis, SP7, SERPINF1, SPARC, WNT1, Novel variants
Journal
European Journal of Medical Genetics
Volume -, Issue -, Pages 103954
Publisher
Elsevier BV
Online
2020-05-13
DOI
10.1016/j.ejmg.2020.103954

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