Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

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Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing Restoration Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

P2860

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Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

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http://www.wikidata.org/entity/Q50316779

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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Compound heterozygous GJB2 mut ...... ve non-syndromic hearing loss.

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Compound heterozygous GJB2 mut ...... ve non-syndromic hearing loss.

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type

Item

label

Compound heterozygous GJB2 mut ...... ve non-syndromic hearing loss.

@en

Compound heterozygous GJB2 mut ...... ve non-syndromic hearing loss.

@nl

prefLabel

Compound heterozygous GJB2 mut ...... ve non-syndromic hearing loss.

@en

Compound heterozygous GJB2 mut ...... ve non-syndromic hearing loss.

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P1476

Compound heterozygous GJB2 mut ...... ve non-syndromic hearing loss.

@en

P2093

Hao Deng

http://www.w3.org/2001/XMLSchema#string

Hong Xia

http://www.w3.org/2001/XMLSchema#string

Hongbo Xu

http://www.w3.org/2001/XMLSchema#string

Wei Xiong

http://www.w3.org/2001/XMLSchema#string

Xiong Deng

http://www.w3.org/2001/XMLSchema#string

Zhijian Yang

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P2860

Structure of the connexin 26 gap junction channel at 3.5 A resolution

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Genotype phenotype correlations for hearing impairment: approaches to management.

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782-785

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scholarly article

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10.3109/00016489.2016.1157727

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English

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136

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Lamei Yuan

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2016-04-04T00:00:00Z

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27045574

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Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

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P2860

P2860

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

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