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- W3106590678 abstract "Significance Presbycusis, or age-related hearing loss, is a major public health issue and the principal potentially modifiable risk factor for dementia. It is caused by environmental factors and largely uncharacterized genetic factors. We compared DNA sequences across genomic coding regions between familial or sporadic cases of severe presbycusis and controls with normal hearing. The frequency of ultrarare predicted pathogenic variants in genes known to cause dominant early-onset forms of deafness was significantly higher in both familial and sporadic cases than in controls. Pathogenicity of many of these variants was established with complementary analyses. Ultrarare variants have a large effect size and are known to cause monogenic disorders. These findings open up possibilities for curing these forms of presbycusis by gene therapy." @default.
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- W3106590678 date "2020-11-23" @default.
- W3106590678 modified "2023-10-18" @default.
- W3106590678 title "Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis" @default.
- W3106590678 cites W1819577402 @default.
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- W3106590678 cites W1964334703 @default.
- W3106590678 cites W1968852642 @default.
- W3106590678 cites W1979526541 @default.
- W3106590678 cites W1980991473 @default.
- W3106590678 cites W1985807150 @default.
- W3106590678 cites W1998775587 @default.
- W3106590678 cites W2005110735 @default.
- W3106590678 cites W2018993912 @default.
- W3106590678 cites W2019304102 @default.
- W3106590678 cites W2023259014 @default.
- W3106590678 cites W2030686355 @default.
- W3106590678 cites W2034022796 @default.
- W3106590678 cites W2061596350 @default.
- W3106590678 cites W2063453347 @default.
- W3106590678 cites W2065013649 @default.
- W3106590678 cites W2069765215 @default.
- W3106590678 cites W2078357046 @default.
- W3106590678 cites W2080543367 @default.
- W3106590678 cites W2091751298 @default.
- W3106590678 cites W2095786576 @default.
- W3106590678 cites W2099610622 @default.
- W3106590678 cites W2108150499 @default.
- W3106590678 cites W2109613069 @default.
- W3106590678 cites W2118027384 @default.
- W3106590678 cites W2119868169 @default.
- W3106590678 cites W2126525177 @default.
- W3106590678 cites W2132041067 @default.
- W3106590678 cites W2142564809 @default.
- W3106590678 cites W2144110983 @default.
- W3106590678 cites W2146973661 @default.
- W3106590678 cites W2154872286 @default.
- W3106590678 cites W2155305163 @default.
- W3106590678 cites W2156825403 @default.
- W3106590678 cites W2159492446 @default.
- W3106590678 cites W2164111003 @default.
- W3106590678 cites W2213152985 @default.
- W3106590678 cites W2268626592 @default.
- W3106590678 cites W2328689382 @default.
- W3106590678 cites W2391499877 @default.
- W3106590678 cites W2407039094 @default.
- W3106590678 cites W2514135560 @default.
- W3106590678 cites W2520762456 @default.
- W3106590678 cites W2536892348 @default.
- W3106590678 cites W2592760352 @default.
- W3106590678 cites W2596343924 @default.
- W3106590678 cites W2736307756 @default.
- W3106590678 cites W2770026599 @default.
- W3106590678 cites W2779822641 @default.
- W3106590678 cites W2801470635 @default.
- W3106590678 cites W2804718214 @default.
- W3106590678 cites W2887730185 @default.
- W3106590678 cites W2888583750 @default.
- W3106590678 cites W2890007520 @default.