VARIANT: 4549v1
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Entry
4549v1 Variant
Name
MT-RNR1 mutation associated with aminoglycoside ototoxity
Gene
RNR1
s-rRNA [KO:
K26191
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
single nucleotide variant 1555A-G
ClinVar:
9628
Reference
PMID:
7689389
Authors
Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, et al.
Title
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.
Journal
Nat Genet 4:289-94 (1993)
DOI:
10.1038/ng0793-289
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