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1 Ergebnisse
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Novel pathogenic EIF2S3 missense variants causing clinicall..:
Kotzaeridou, Urania
;
Young‐Baird, Sara K.
;
Suckow, Vanessa
...
Clinical Genetics. 98 (2020) 5 - p. 507-514 , 2020
Link:
https://doi.org/10.1111/cge.13831
RT Journal T1
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.13831&Exemplar=1&LAN=DE A1 Kotzaeridou, Urania A1 Young‐Baird, Sara K. A1 Suckow, Vanessa A1 Thornburg, Alexis G. A1 Wagner, Matias A1 Harting, Inga A1 Christ, Stine A1 Strom, Tim A1 Dever, Thomas E. A1 Kalscheuer, Vera M. PB Wiley YR 2020 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 98 IS 5 SP 507 OP 514 LK http://dx.doi.org/https://doi.org/10.1111/cge.13831 DO https://doi.org/10.1111/cge.13831 SF ELIB - SuUB Bremen
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