Associated Papers
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.
Yang Z et al.
Molecular Genetics & Genomic Medicine, 2023
Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
Qian X et al.
Frontiers in Genetics, 2021
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
Yang T et al.
Orphanet Journal of Rare Diseases, 2013
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