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283310 OTOGL

283310

OTOGL

otogelin like

protein-coding

Homo sapiens

基因描述

Type Description
Definition otogelin like

研究结论

Date Results Publications
2021-01-23 13:04:00 [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene]. 33455126
2015-12-19 10:11:00 We identified novel biallelic OTOGL mutations in a Chinese autosomal recessive non-syndromic hearing loss family. 25829320
2015-02-07 10:53:00 Patients with OTOGL mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present. 24378291
2013-01-26 11:17:00 OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss. 23122586
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Synonymous C12orf64, DFNB84B
Gene
UniProtKB-ID: A0A0A0MSS2_HUMAN
UniprotKB: A0A0A0MSS2
UniParc: UPI0001D089C5
EMBL: AC083812, AC092945, AC078817
Ensembl: ENSG00000165899
Nucleutide sequences
Ensembl_TRS: ENST00000458043
Protein sequencees
Ensembl_PRO: ENSP00000400895
RefSeq: NP_001365539.2, NP_775862.4, NP_001354991.2, XP_011536495.1, XP_005268859.1, XP_011536494.1, NP_001365538.2
Others
UniRef100: UniRef100_A0A0A0MSS2
UniRef90: UniRef90_Q3ZCN5
UniRef50: UniRef50_Q3ZCN5
UniGene: Hs.723594

全选

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研究热度

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