Varaico: Literature-Extracted Genetic Variants

Gene:MSRB3
Variant:p.S89A
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MSRB3

NM_001031679.3:p.S89A

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

Molecular genetic landscape of hereditary hearing loss in Pakistan.

Naz S

Human Genetics, 2022

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Down-regulation of msrb3 and destruction of normal auditory system development through hair cell apoptosis in zebrafish.

Shen X et al.

The International Journal of Developmental Biology, 2015

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

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."