Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.K517fs
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MARVELD2

NM_001038603.3:p.K517fs

Associated Papers

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

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

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D et al.

Human Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."