Associated Papers
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.
Twumasi Aboagye E et al.
International Journal of Molecular Sciences, 2025
40244166 (PubMed )
Supplement: ijms-26-03337-s001.zip › ijms-3532175-supplementary.pdf
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.
Shi X et al.
Molecular Genetics & Genomic Medicine, 2024
Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.
Huang C et al.
Frontiers in Genetics, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3
A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss.
Sadeghi Z et al.
International Medical Case Reports Journal, 2020
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Taghipour-Sheshdeh A et al.
Genomics, 2019
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
Mašindová I et al.
Plos One, 2015
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.
Šafka Brožková D et al.
Clinical Genetics, 2012
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.
Chishti MS et al.
Journal of Human Genetics, 2008
Select a paper to view details