Associated Papers
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.
Salame M et al.
Journal of Applied Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Domínguez-Ruiz M et al.
Genes, 2022
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.
Salime S et al.
International Journal of Pediatric Otorhinolaryngology, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 2016
Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
Zhang QJ et al.
Acta Oto-laryngologica, 2015
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Borck G et al.
Clinical Genetics, 2012
DFNA5, a gene involved in hearing loss and cancer: a review.
de Beeck KO et al.
The Annals of Otology, Rhinology, and Laryngology, 2012
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW et al.
Human Mutation, 2007
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