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Samuel S. Bailey
University of Washington
spliceExonGeneticsSplice site mutationBiology
2Publications
2H-index
38Citations
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Publications 2
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#1Melanie G. Pepin (UW: University of Washington)H-Index: 23
#2Mitzi L. Murray (UW: University of Washington)H-Index: 11
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
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The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
31 CitationsSource
#1Jennifer Schleit (UW: University of Washington)H-Index: 12
#2Samuel S. Bailey (UW: University of Washington)H-Index: 2
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
view all 7 authors...
Approximately 10%–20% of germline pathogenic variants alter mRNA splicing, with phenotypes often dependent on the stability of the mRNA produced by the mutant allele. To better understand the relationships between genotype, mRNA splicing, and phenotype, we examined clinical and molecular data from 243 probands with osteogenesis imperfecta (OI) representing 145 unique splicing variants within the type I procollagen gene, COL1A1. All individuals with IVSX-1G>A mutations had OI type I because the s...
7 CitationsSource
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