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1 Ergebnisse
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MED13L haploinsufficiency syndrome: A de novo frameshift an..:
Yamamoto, Toshiyuki
;
Shimojima, Keiko
;
Ondo, Yumiko
..
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1264-1269 , 2017
Link:
https://doi.org/10.1002/ajmg.a.38168
RT Journal T1 <Title>MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.38168&Exemplar=1&LAN=DE A1 Yamamoto, Toshiyuki A1 Shimojima, Keiko A1 Ondo, Yumiko A1 Shimakawa, Shuichi A1 Okamoto, Nobuhiko PB Wiley YR 2017 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 173 IS 5 SP 1264 OP 1269 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.38168 DO https://doi.org/10.1002/ajmg.a.38168 SF ELIB - SuUB Bremen
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