Varaico: Literature-Extracted Genetic Variants

Gene:RDX
Variant:p.D578N
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RDX

NM_002906.4:p.D578N

Associated Papers

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.

Lee K et al.

Genetics Research International, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

Shearer AE et al.

American Journal of Medical Genetics. Part A, 2009

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

Khan SY et al.

Human Mutation, 2007

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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."