Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 genes identified. Recently,
TMEM132E
, which is highly expressed in inner hair cells, was suggested as a novel ARNSHI gene for DFNB99. A missense variant c.1259G>A: p.(Arg420Gln) in
TMEM132E
was identified that segre...
Alternative Titles
Full title
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8216908
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8216908
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-019-0691-4
