Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

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Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish.

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Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

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http://www.wikidata.org/entity/Q47074112

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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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2016年學術文章

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name

Putative digenic inheritance o ...... n syndromic retinal dystrophy.

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Putative digenic inheritance o ...... n syndromic retinal dystrophy.

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type

Item

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Putative digenic inheritance o ...... n syndromic retinal dystrophy.

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Putative digenic inheritance o ...... n syndromic retinal dystrophy.

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Putative digenic inheritance o ...... n syndromic retinal dystrophy.

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Putative digenic inheritance o ...... n syndromic retinal dystrophy.

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Putative digenic inheritance o ...... n syndromic retinal dystrophy.

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Anna M Siemiatkowska

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Claes Möller

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Daniëlle G M Bosch

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F Nienke Boonstra

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Frans P M Cremers

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Lisbeth Tranebjærg

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Nanna Dahl Rendtorff

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Nicholas Katsanis

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Yangfan P Liu

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P2860

Retinitis pigmentosa

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

Efficient genome editing in zebrafish using a CRISPR-Cas system

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.

Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

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127-132

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scholarly article

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10.3109/13816810.2016.1151898

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2016-03-30T00:00:00Z

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5967407

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Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

about

P2860

P2860

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

description

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P1476

P2093

P2860

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P698

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P2860

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P433

P478

P577

P698

P932