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A novel POC1A variant in an alternatively spliced exon caus..:
Al-Kindi, Adila
;
Al-Shehhi, Maryam
;
Westenberger, Ana
...
Journal of Human Genetics. 65 (2019) 2 - p. 193-197 , 2019
Link:
https://doi.org/10.1038/s10038-019-0693-2
RT Journal T1
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s10038-019-0693-2&Exemplar=1&LAN=DE A1 Al-Kindi, Adila A1 Al-Shehhi, Maryam A1 Westenberger, Ana A1 Beetz, Christian A1 Scott, Patrick A1 Brandau, Oliver A1 Abbasi-Moheb, Lia A1 Yüksel, Zafer A1 Bauer, Peter A1 Rolfs, Arndt A1 Grüning, Nana-Maria PB Springer Science and Business Media LLC YR 2019 SN 1434-5161 SN 1435-232X JF Journal of Human Genetics VO 65 IS 2 SP 193 OP 197 LK http://dx.doi.org/https://doi.org/10.1038/s10038-019-0693-2 DO https://doi.org/10.1038/s10038-019-0693-2 SF ELIB - SuUB Bremen
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