Associated Papers
Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia.
Long Y et al.
Frontiers in Genetics, 2025
Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
Wang Y et al.
Journal of Assisted Reproduction and Genetics, 2020
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Paff T et al.
American Journal of Human Genetics, 2017
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