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Compound heterozygous splicing variants expand the genotypi..:
Bryen, Samantha J.
;
Zhang, Katharine
;
Dziaduch, Gregory
...
Clinical Genetics. 103 (2023) 5 - p. 553-559 , 2023
Link:
https://doi.org/10.1111/cge.14311
RT Journal T1
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14311&Exemplar=1&LAN=DE A1 Bryen, Samantha J. A1 Zhang, Katharine A1 Dziaduch, Gregory A1 Bommireddipalli, Shobhana A1 Naseri, Take A1 Reupena, Muagututi'a Sefuiva A1 Viali, Satupa'itea A1 Minster, Ryan L. A1 Waddell, Leigh B. A1 Charlton, Amanda A1 O'Grady, Gina L. A1 Evesson, Frances J. A1 Cooper, Sandra T. PB Wiley YR 2023 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 103 IS 5 SP 553 OP 559 LK http://dx.doi.org/https://doi.org/10.1111/cge.14311 DO https://doi.org/10.1111/cge.14311 SF ELIB - SuUB Bremen
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