Associated Papers
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.
Du Q et al.
Bmc Medical Genomics, 2022
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H et al.
Bmc Medical Genomics, 2021
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Lee SY et al.
International Journal of Molecular Sciences, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Guan J et al.
American Journal of Medical Genetics. Part A, 2018
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