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1 Ergebnisse
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Rare deleterious de novo missense variants in Rnf2/Ring2 ar..:
Luo, Xi
;
Schoch, Kelly
;
Jangam, Sharayu V
...
Human Molecular Genetics. 30 (2021) 14 - p. 1283-1292 , 2021
Link:
https://doi.org/10.1093/hmg/ddab110
RT Journal T1
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddab110&Exemplar=1&LAN=DE A1 Luo, Xi A1 Schoch, Kelly A1 Jangam, Sharayu V A1 Bhavana, Venkata Hemanjani A1 Graves, Hillary K A1 Kansagra, Sujay A1 Jasien, Joan M A1 Stong, Nicholas A1 Keren, Boris A1 Mignot, Cyril A1 Ravelli, Claudia A1 Bellen, Hugo J A1 Wangler, Michael F A1 Shashi, Vandana A1 Yamamoto, Shinya A1 Undiagnosed Diseases Network PB Oxford University Press (OUP) YR 2021 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 30 IS 14 SP 1283 OP 1292 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddab110 DO https://doi.org/10.1093/hmg/ddab110 SF ELIB - SuUB Bremen
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