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ALPK1 missense pathogenic variant in five families leads to..:
Williams, Lloyd B.
;
Javed, Asif
;
Sabri, Amin
...
Genetics in Medicine. 21 (2019) 9 - p. 2103-2115 , 2019
Link:
https://doi.org/10.1038/s41436-019-0476-3
RT Journal T1
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-019-0476-3&Exemplar=1&LAN=DE A1 Williams, Lloyd B. A1 Javed, Asif A1 Sabri, Amin A1 Morgan, Denise J. A1 Huff, Chad D. A1 Grigg, John R. A1 Heng, Xiu Ting A1 Khng, Alexis J. A1 Hollink, Iris H.I.M. A1 Morrison, Margaux A. A1 Owen, Leah A. A1 Anderson, Katherine A1 Kinard, Krista A1 Greenlees, Rebecca A1 Novacic, Danica A1 Nida Sen, H. A1 Zein, Wadih M. A1 Rodgers, George M. A1 Vitale, Albert T. A1 Haider, Neena B. A1 Hillmer, Axel M. A1 Ng, Pauline C. A1 Shankaracharya A1 Cheng, Anson A1 Zheng, Linda A1 Gillies, Mark C. A1 van Slegtenhorst, Marjon A1 van Hagen, P. Martin A1 Missotten, Tom O.A.R. A1 Farley, Gary L. PB Elsevier BV YR 2019 SN 1098-3600 JF Genetics in Medicine VO 21 IS 9 SP 2103 OP 2115 LK http://dx.doi.org/https://doi.org/10.1038/s41436-019-0476-3 DO https://doi.org/10.1038/s41436-019-0476-3 SF ELIB - SuUB Bremen
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