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Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

Document Type

Article

Author

Gardner, E.J.; Lindsay, S.J.; Prigmore, E.; Rajan, D.; Danecek, P.; Gallone, G.; Eberhardt, R.Y.; Martin, H.C.; Firth, H.V.; Hurles, M.E.; Sifrim, A.; Wright, C.F.; FitzPatrick, D.R.

Source

In: American Journal of Human Genetics. (American Journal of Human Genetics, 4 November 2021, 108(11):2186-2194)

Subject

Language

English

ISSN

15376605
00029297

Online Access

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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