High Diagnostic Yield in Skeletal Ciliopathies Using Massively Parallel Genome Sequencing, Structural Variant Screening and RNA Analyses.
Journal of Human Genetics(2021)
Key words
Clinical genetics,Genetics research,Medical genetics,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy
AI Read Science
Must-Reading Tree
Example

Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined