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OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

BACKGROUND: X-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported. The OTUD5 gene at Xp11.23 encodes ovarian tumor deubiquitinase 5 protein, which is a deubiquitin...

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Detalles Bibliográficos
Autores principales: Saida, Ken, Fukuda, Tokiko, Scott, Daryl A., Sengoku, Toru, Ogata, Kazuhiro, Nicosia, Annarita, Hernandez-Garcia, Andres, Lalani, Seema R., Azamian, Mahshid S., Streff, Haley, Liu, Pengfei, Dai, Hongzheng, Mizuguchi, Takeshi, Miyatake, Satoko, Asahina, Miki, Ogata, Tsutomu, Miyake, Noriko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7965969/
https://www.ncbi.nlm.nih.gov/pubmed/33748114
http://dx.doi.org/10.3389/fcell.2021.631428