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A homozygous frameshift variant in an alternatively spliced..:
Yüksel, Zafer
;
Vogel, Florian
;
Alhashem, Amal M.
...
Clinical Genetics. 95 (2019) 5 - p. 631-633 , 2019
Link:
https://doi.org/10.1111/cge.13513
RT Journal T1
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.13513&Exemplar=1&LAN=DE A1 Yüksel, Zafer A1 Vogel, Florian A1 Alhashem, Amal M. A1 Alanzi, Talal S.A. A1 Tabarki, Brahim A1 Kampe, Kapil A1 Kandaswamy, Krishna K. A1 Werber, Martin A1 Bertoli‐Avella, Aida M. A1 Beetz, Christian A1 Rolfs, Arndt A1 Bauer, Peter PB Wiley YR 2019 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 95 IS 5 SP 631 OP 633 LK http://dx.doi.org/https://doi.org/10.1111/cge.13513 DO https://doi.org/10.1111/cge.13513 SF ELIB - SuUB Bremen
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