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1 Ergebnisse
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Missense variants causing Wiedemann-Steiner syndrome prefer..:
Reynisdottir, Tinna
;
Anderson, Kimberley Jade
;
Boukas, Leandros
..
PLOS Genetics. 18 (2022) 6 - p. e1010278 , 2022
Link:
https://doi.org/10.1371/journal.pgen.1010278
RT Journal T1
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
UL https://suche.suub.uni-bremen.de/peid=cr-10.1371_journal.pgen.1010278&Exemplar=1&LAN=DE A1 Reynisdottir, Tinna A1 Anderson, Kimberley Jade A1 Boukas, Leandros A1 Bjornsson, Hans Tomas A1 Greally, John M. PB Public Library of Science (PLoS) YR 2022 SN 1553-7404 JF PLOS Genetics VO 18 IS 6 SP e1010278 LK http://dx.doi.org/https://doi.org/10.1371/journal.pgen.1010278 DO https://doi.org/10.1371/journal.pgen.1010278 SF ELIB - SuUB Bremen
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