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1 Ergebnisse
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Pathogenic STX3 variants affecting the retinal and intestin..:
Janecke, Andreas R.
;
Liu, Xiaoqin
;
Adam, Rüdiger
...
Human Genetics. 140 (2021) 8 - p. 1143-1156 , 2021
Link:
https://doi.org/10.1007/s00439-021-02284-1
RT Journal T1
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s00439-021-02284-1&Exemplar=1&LAN=DE A1 Janecke, Andreas R. A1 Liu, Xiaoqin A1 Adam, Rüdiger A1 Punuru, Sumanth A1 Viestenz, Arne A1 Strauß, Valeria A1 Laass, Martin A1 Sanchez, Elizabeth A1 Adachi, Roberto A1 Schatz, Martha P. A1 Saboo, Ujwala S. A1 Mittal, Naveen A1 Rohrschneider, Klaus A1 Escher, Johanna A1 Ganesh, Anuradha A1 Al Zuhaibi, Sana A1 Al Murshedi, Fathiya A1 AlSaleem, Badr A1 Alfadhel, Majid A1 Al Sinani, Siham A1 Alkuraya, Fowzan S. A1 Huber, Lukas A. A1 Müller, Thomas A1 Heidelberger, Ruth A1 Janz, Roger PB Springer Science and Business Media LLC YR 2021 SN 0340-6717 SN 1432-1203 JF Human Genetics VO 140 IS 8 SP 1143 OP 1156 LK http://dx.doi.org/https://doi.org/10.1007/s00439-021-02284-1 DO https://doi.org/10.1007/s00439-021-02284-1 SF ELIB - SuUB Bremen
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