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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 c...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2011
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3303183/ https://ncbi.nlm.nih.gov/pubmed/21660509 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-1018-5 |
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