Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

BACKGROUND: Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human diseases known collectively as “coatopathies”. METHODS: Whol...

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Detalles Bibliográficos
Autores principales: Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, Baralle, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908744/
https://www.ncbi.nlm.nih.gov/pubmed/33632302
http://dx.doi.org/10.1186/s13073-021-00850-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908744/
https://www.ncbi.nlm.nih.gov/pubmed/33632302
http://dx.doi.org/10.1186/s13073-021-00850-w

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