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4549 RNR1

4549

RNR1

s-rRNA

rRNA

Homo sapiens

基因描述

Type Description
Definition s-rRNA

研究结论

Date Results Publications
2020-12-26 13:12:00 The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. 32645618
2019-08-17 10:14:00 Heteroplasmic transition of A to G at position 1555 of MT-RNR1 gene was identified in all affected individuals co-existing with nuclear c.28G>T (p.A10S) variant in the TRMU gene, only in some patients with hereditary non-syndromic hearing loss of variable severity. 30205178
2019-08-03 13:08:00 In this study, a total of 86 patients harbored m.1555A > G (17.00%, 86/ 506) and two patients carried m.1494C > T (0.40%, 2/506). 31035178
2019-04-13 10:18:00 MTRNR1 mutation is associated with aminoglycoside-induced deafness. 30523288
2018-12-01 11:52:00 Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G. 30036422

名称对应

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Type IDs
Synonymous MTRNR1