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Year | Number of Results |
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PubMed for id: 436381
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Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred.
Int J Pediatr Otorhinolaryngol. 2019 Sep;124:99-105. doi: 10.1016/j.ijporl.2019.05.023. Epub 2019 May 21.
Int J Pediatr Otorhinolaryngol. 2019.
PMID: 31176026
Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.
Ma Y, Xiao Y, Zhang F, Han Y, Li J, Xu L, Bai X, Wang H.
Ma Y, et al.
Int J Pediatr Otorhinolaryngol. 2016 Apr;83:179-85. doi: 10.1016/j.ijporl.2016.01.001. Epub 2016 Jan 7.
Int J Pediatr Otorhinolaryngol. 2016.
PMID: 26968074
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Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.
Ben-Salem S, Rehm HL, Willems PJ, Tamimi ZA, Ayadi H, Ali BR, Al-Gazali L.
Ben-Salem S, et al.
Mol Biol Rep. 2014 Jan;41(1):193-200. doi: 10.1007/s11033-013-2851-5. Epub 2013 Nov 6.
Mol Biol Rep. 2014.
PMID: 24194196
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Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S.
Ben Rebeh I, et al.
Mol Vis. 2010 Sep 30;16:1898-906.
Mol Vis. 2010.
PMID: 21031134
Free PMC article.
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