Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa. - Wikidata - awgldk - TriplyDB

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

http://www.wikidata.org/entity/Q37647864

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Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

http://www.wikidata.org/entity/Q37647864

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 18 February 2017

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

@en

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

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type

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Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

@en

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

@nl

prefLabel

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

@en

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

@nl

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International Journal of Ophthalmology

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Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

@en

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Feng-Juan Gao

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Ge-Zhi Xu

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Ji-Hong Wu

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Jun-Yi Chen

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Sheng-Hai Zhang

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P2860

LDL-receptor-related proteins in Wnt signal transduction

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Copy-number variations in EYS: a significant event in the appearance of arRP.

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.

Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.

Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

Experience with targeted next generation sequencing for the care of lung cancer: insights into promises and limitations of genomic oncology in day-to-day practice.

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325-328

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scholarly article

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10.18240/IJO.2017.02.25

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2

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10

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2017-02-18T00:00:00Z

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28251098

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5313562

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