Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
COPB1 中的双等位基因变异会导致一种新的严重智力障碍综合征，并伴有白内障和不同程度的小头畸形
期刊:Genome Medicine
影响因子:10.4
doi:10.1186/s13073-021-00850-w
William L Macken #, Annie Godwin #, Gabrielle Wheway #, Karen Stals #, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A Wai, Jay Self, Andrew G L Douglas, Alexander P Kao, Matthew Guille, Diana Baralle
