Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations
Author:
Funder
Ministry of Science and Technology of the People's Republic of China
National Natural Science Foundation of China
National Institute of Health
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00438-024-02158-x.pdf
Reference75 articles.
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3. Amberger JS, Bocchini CA, Schiettecatte F et al (2015) OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res 43:789–798. https://doi.org/10.1093/nar/gku1205
4. Audano PA, Sulovari A, Graves-Lindsay TA et al (2019) Characterizing the Major Structural Variant Alleles of the Human Genome. Cell 176(3):663–675. https://doi.org/10.1016/j.cell.2018.12.019
5. Barile M, Giancaspero TA, Leone P et al (2016) Riboflavin transport and metabolism in humans. J Inherit Metab Dis 39:545–557
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