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Year | Number of Results |
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2010 | 3 |
2013 | 1 |
2024 | 0 |
PubMed for id: 413222
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The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
Biochem Genet. 2013 Jun;51(5-6):350-7. doi: 10.1007/s10528-013-9568-y. Epub 2013 Jan 23.
Biochem Genet. 2013.
PMID: 23340767
Free PMC article.
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB.
Rehman AU, et al.
Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18.
Am J Hum Genet. 2010.
PMID: 20170899
Free PMC article.
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Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B.
Li Y, et al.
Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18.
Am J Hum Genet. 2010.
PMID: 20170898
Free PMC article.
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DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman AU, Morell RJ, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB.
Khan SY, et al.
Eur J Hum Genet. 2010 Jan;18(1):125-9. doi: 10.1038/ejhg.2009.121.
Eur J Hum Genet. 2010.
PMID: 19603065
Free PMC article.
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