The lack of homozygotes with a large deletion encompassing and in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein.
作者信息
Rabiasz Alicja, Drobna-Śledzińska Monika, Kaźmierczak Patrycja, Witt Michał, Ziętkiewicz Ewa
机构信息
Institute of Human Genetics, Polish Academy of Sciences, Poznań 60-479, Poland.
出版信息
Genes Dis. 2025 Jan 20;12(6):101535. doi: 10.1016/j.gendis.2025.101535. eCollection 2025 Nov.
Abstract
摘要
Zotero 插件