Varaico: Literature-Extracted Genetic Variants

Gene:MSRB3
Variant:p.R19*
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MSRB3

NM_001031679.3:p.R19*

Associated Papers

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Shadab M et al.

Journal of Cellular and Molecular Medicine, 2024

Methionine Sulfoxide Reductase B3-Targeted In Utero Gene Therapy Rescues Hearing Function in a Mouse Model of Congenital Sensorineural Hearing Loss.

Kim MA et al.

Antioxidants & Redox Signaling, 2016

Porcine methionine sulfoxide reductase B3: molecular cloning, tissue-specific expression profiles, and polymorphisms associated with ear size in Sus scrofa.

Zhang Y et al.

Journal of Animal Science and Biotechnology, 2015

Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells.

Kwon TJ et al.

Human Molecular Genetics, 2014

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Ahmed ZM et al.

American Journal of Human Genetics, 2011

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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."