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Biallelic variants in the RNA exosome gene EXOSC5 are assoc..:
Slavotinek, Anne
;
Misceo, Doriana
;
Htun, Stephanie
...
qt4t04689r. , 2020
Link:
https://escholarship.org/uc/item/4t04689r
RT Journal T1
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt4t04689r&Exemplar=1&LAN=DE A1 Slavotinek, Anne A1 Misceo, Doriana A1 Htun, Stephanie A1 Mathisen, Linda A1 Frengen, Eirik A1 Foreman, Michelle A1 Hurtig, Jennifer E A1 Enyenihi, Liz A1 Sterrett, Maria C A1 Leung, Sara W A1 Schneidman-Duhovny, Dina A1 Estrada-Veras, Juvianee A1 Duncan, Jacque L A1 Haaxma, Charlotte A A1 Kamsteeg, Erik-Jan A1 Xia, Vivian A1 Beleford, Daniah A1 Si, Yue A1 Douglas, Ganka A1 Treidene, Hans Einar A1 van Hoof, Ambro A1 Fasken, Milo B A1 Corbett, Anita H PB eScholarship, University of California YR 2020 K1 Clinical Research K1 Genetics K1 Neurosciences K1 Rare Diseases K1 Aetiology K1 2.1 Biological and endogenous factors K1 Animals K1 Antigens K1 Neoplasm K1 Cerebellum K1 Developmental Disabilities K1 Dwarfism K1 Exosome Multienzyme Ribonuclease Complex K1 Frameshift Mutation K1 Homozygote K1 Humans K1 Mutation K1 Missense K1 Nervous System Malformations K1 Pedigree K1 RNA-Binding Proteins K1 Zebrafish K1 Biological Sciences K1 Medical and Health Sciences K1 Genetics & Heredity JF qt4t04689r LK http://dx.doi.org/https://escholarship.org/uc/item/4t04689r DO https://escholarship.org/uc/item/4t04689r SF ELIB - SuUB Bremen
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