Associated Papers
A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness.
Shabbir K et al.
The Journal of Biological Chemistry, 2026
Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome.
Zehri Z et al.
Molecular Syndromology, 2024
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ et al.
Genome Medicine, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).
Mohseni M et al.
Journal of Human Genetics, 2020
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
Doll J et al.
International Journal of Molecular Sciences, 2020
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