Articles with "variant 919" as a keyword



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Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

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Published in 2023 at "Genes"

DOI: 10.3390/genes14040928

Abstract: Pathogenic variants in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss worldwide. Earlier, we found a high proportion of SLC26A4-related hearing… read more here.

Keywords: slc26a4 gene; pathogenic variant; hearing loss; variant 919 ... See more keywords