A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family
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Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population.CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.Advances in genetic hearing loss: CIB2 gene.Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice.Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.Variants in CIB2 cause DFNB48 and not USH1J.Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.Preferential Binding of Mg Over Ca to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J
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P2860
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family
description
2015 nî lūn-bûn
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2015 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2015 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@ast
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@en
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@nl
type
label
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@ast
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@en
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@nl
prefLabel
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@ast
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@en
A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@nl
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A Novel C-Terminal CIB2 (Calci ...... ring Loss in a Hispanic Family
@en
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J M Grossheim
Joy Samanich
Kunjan Patel
Maria Delio
Rashmi S Hegde
Saima Riazuddin
Zubair M Ahmed
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P304
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P356
10.1371/JOURNAL.PONE.0133082
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P577
2015-10-01T00:00:00Z