Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

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Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

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2017 nî lūn-bûn

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Exome Sequencing Identifies a ...... eafness in a Brazilian Family.

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Exome Sequencing Identifies a ...... eafness in a Brazilian Family.

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Exome Sequencing Identifies a ...... eafness in a Brazilian Family.

@en

Exome Sequencing Identifies a ...... eafness in a Brazilian Family.

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Exome Sequencing Identifies a ...... eafness in a Brazilian Family.

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Exome Sequencing Identifies a ...... eafness in a Brazilian Family.

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P1476

Exome Sequencing Identifies a ...... Deafness in a Brazilian Family

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Ana Carla Batissoco

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Juliana Sampaio-Silva

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Layla Testa Galindo

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Luciano Cesar Scarpelli

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Patricia Yoshie Nishimura

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Rafaela Jesus-Santos

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Ricardo Ferreira Bento

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Myosin VI is an actin-based motor that moves backwards

Mutations of MYO6 are associated with recessive deafness, DFNB37

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

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23-34

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scholarly article

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10.1111/AHG.12213

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English

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P478

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Osorio Abath Neto

Karina Lezirovitz

Jeanne Oiticica

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2017-10-17T00:00:00Z

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29044474

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