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1 Ergebnisse
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Biallelic variants in the small optic lobe calpain CAPN15 a..:
Zha, Congyao
;
Farah, Carole A
;
Holt, Richard J
...
Human Molecular Genetics. 29 (2020) 18 - p. 3054-3063 , 2020
Link:
https://doi.org/10.1093/hmg/ddaa198
RT Journal T1
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddaa198&Exemplar=1&LAN=DE A1 Zha, Congyao A1 Farah, Carole A A1 Holt, Richard J A1 Ceroni, Fabiola A1 Al-Abdi, Lama A1 Thuriot, Fanny A1 Khan, Arif O A1 Helaby, Rana A1 Lévesque, Sébastien A1 Alkuraya, Fowzan S A1 Kraus, Alison A1 Ragge, Nicola K A1 Sossin, Wayne S PB Oxford University Press (OUP) YR 2020 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 29 IS 18 SP 3054 OP 3063 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddaa198 DO https://doi.org/10.1093/hmg/ddaa198 SF ELIB - SuUB Bremen
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