ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease.
Chen-Yu WangSi-Hua ChangCheng-Feng HuYi-Qiao HuHong LuoLv LiuLiang-Liang FanPublished in: Molecular medicine (Cambridge, Mass.) (2024)
We may first report the ZCCHC8 mutation in Asian population with IPF. Our study broadens the mutation, phenotype, and population spectrum of ZCCHC8 deficiency.