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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes

Document Type

Article

Author

Harris, E.L.; Rose, A.M.S.; Carr, I.M.; Sheridan, E.G.; Poulter, J.A.; Roy, V.; Montagne, M.; Lavigne, P.; Livesey, H.; Hobson, E.; Warren, D.; Long, V.; Reijnders, M.R.F.; Sansbury, F.H.; Willemsen, M.H.; Pfundt, R.; Brunner, H.G.; Firth, H.V.

Source

In: American Journal of Human Genetics. (American Journal of Human Genetics, 4 January 2024, 111(1):119-132)

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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