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1 Ergebnisse
1
De novo small deletion affecting transcription start site o..:
Martinez-Delgado, Beatriz
;
Lopez-Martin, Estrella
;
Lara-Herguedas, Julián
...
https://doi.org/10.1002/ajmg.a.62017. , 2021
Link:
https://hdl.handle.net/20.500.12105/17268
RT Journal T1
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects
UL https://suche.suub.uni-bremen.de/peid=base-ftintsaludcarlos:oai:repisalud.isciii.es:20.500.12105_17268&Exemplar=1&LAN=DE A1 Martinez-Delgado, Beatriz A1 Lopez-Martin, Estrella A1 Lara-Herguedas, Julián A1 Monzon, Sara A1 Cuesta, Isabel A1 Juliá, Miguel A1 Aquino, Virginia A1 Rodriguez-Martin, Carlos A1 Damian, Alejandra A1 Gonzalo, Irene A1 Gomez-Mariano, Gema Maria A1 Baladron-Jimenez, Beatriz Isabel A1 Cazorla, Rosario A1 Iglesias, Gema A1 Roman, Enriqueta A1 Ros, Purificacion A1 Tutor, Pablo A1 Mellor, Susana A1 Jimenez, Carlos A1 Cabrejas, Maria Jose A1 Gonzalez-Vioque, Emiliano A1 Alonso, Javier A1 Bermejo-Sanchez, Eva A1 Posada De la Paz, Manuel PB Wiley YR 2021 K1 AUTS2 gene K1 AUTS2 syndrome K1 Expression K1 Short isoform K1 Sequence Deletion K1 Transcription Initiation Site K1 Child K1 Preschool K1 Cytoskeletal Proteins K1 Dwarfism K1 Exons K1 Gene Expression Regulation K1 Genetic Association Studies K1 Humans K1 Male K1 Neurodevelopmental Disorders K1 Protein Isoforms K1 RNA K1 Messenger K1 Syndrome K1 Transcription Factors K1 Transcription K1 Genetic JF https://doi.org/10.1002/ajmg.a.62017 LK http://dx.doi.org/https://hdl.handle.net/20.500.12105/17268 DO https://hdl.handle.net/20.500.12105/17268 SF ELIB - SuUB Bremen
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