RecName: Full=Clarin-1; AltName: Full=Usher syndrome type-3 protein

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Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort. [Invest Ophthalmol Vis Sci. 2022]
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM, Nassisi M, Mohand-Saïd S, Bonnet C, Aubois A, Devisme C, Dib T, Zeitz C, Loundon N, Marlin S, et al. Invest Ophthalmol Vis Sci. 2022 Apr 1; 63(4):25.
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. [Sci Rep. 2017]
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ. Sci Rep. 2017 May 3; 7(1):1411. Epub 2017 May 3.
Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports. [Ann Otol Rhinol Laryngol. 2015]
Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami S. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:94S-9S. Epub 2015 Mar 5.

RefSeq genomic sequence
See the genomic reference sequence for the CLRN1 gene (NG_009168.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the CLRN1 gene.

P58418 [Domain Mapping of Disease Mut...]
P58418
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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