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Non-coding region variants upstream of MEF2C cause severe d..:
Wright, CF
;
Quaife, NM
;
Ramos-Hernández, L
...
American Journal of Human Genetics. , 2021
Link:
http://hdl.handle.net/10044/1/89704
RT Journal T1
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
UL https://suche.suub.uni-bremen.de/peid=base-ftimperialcol:oai:spiral.imperial.ac.uk:10044_1_89704&Exemplar=1&LAN=DE A1 Wright, CF A1 Quaife, NM A1 Ramos-Hernández, L A1 Danecek, P A1 Ferla, MP A1 Samocha, KE A1 Kaplanis, J A1 Gardner, EJ A1 Eberhardt, RY A1 Chao, KR A1 Karczewski, KJ A1 Morales, J A1 Gallone, G A1 Balasubramanian, M A1 Banka, S A1 Gompertz, L A1 Kerr, B A1 Kirby, A A1 Lynch, SA A1 Morton, JEV A1 Pinz, H A1 Sansbury, FH A1 Stewart, H A1 Zuccarelli, BD A1 Genomics England Research Consortium A1 Cook, SA A1 Taylor, JC A1 Juusola, J A1 Retterer, K A1 Firth, HV A1 Hurles, ME A1 Lara-Pezzi, E A1 Barton, PJR A1 Whiffin, N PB Cell Press YR 2021 K1 developmental disorders K1 clinical genetic testing K1 non-coding region variants K1 5' UTR variants K1 Genomics England Research Consortium K1 Genetics & Heredity K1 06 Biological Sciences K1 11 Medical and Health Sciences JF American Journal of Human Genetics LK http://hdl.handle.net/10044/1/89704 DO http://hdl.handle.net/10044/1/89704 SF ELIB - SuUB Bremen
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