Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.

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Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

@yue

2015年論文

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2015年論文

@zh-hk

2015年論文

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2015年论文

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name

Targeted exome sequencing reve ...... s with simplex Usher syndrome.

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Targeted exome sequencing reve ...... s with simplex Usher syndrome.

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label

Targeted exome sequencing reve ...... s with simplex Usher syndrome.

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Targeted exome sequencing reve ...... s with simplex Usher syndrome.

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Targeted exome sequencing reve ...... s with simplex Usher syndrome.

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Targeted exome sequencing reve ...... s with simplex Usher syndrome.

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Targeted exome sequencing reve ...... s with simplex Usher syndrome.

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Hai-Rong Shu

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Hang-Yu Xu

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Huai Bi

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Jian-Xin Song

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Jie Hu

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Yang-Chun Pan

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P2860

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

Fast and accurate long-read alignment with Burrows-Wheeler transform

A framework for variation discovery and genotyping using next-generation DNA sequencing data

SolexaQA: At-a-glance quality assessment of Illumina second-generation sequencing data

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

Usher syndrome: from genetics to pathogenesis.

Usher syndrome: definition and estimate of prevalence from two high-risk populations.

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

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s12881-015-0223-9

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scholarly article

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10.1186/S12881-015-0223-9

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2015-09-16T00:00:00Z

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282042218

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26377068

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