Associated Papers
Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.
Ito M et al.
Internal Medicine (tokyo, Japan), 2025
Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.
Li Y et al.
Journal of Assisted Reproduction and Genetics, 2023
Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.
Yue Y et al.
Frontiers in Genetics, 2019
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