Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

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im August 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 29 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Mutation in the intracellular ...... recessive retinitis pigmentosa

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Mutation in the intracellular ...... recessive retinitis pigmentosa

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Mutation in the intracellular ...... recessive retinitis pigmentosa

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Mutation in the intracellular ...... recessive retinitis pigmentosa

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Mutation in the intracellular ...... recessive retinitis pigmentosa

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Mutation in the intracellular ...... recessive retinitis pigmentosa

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P1476

Mutation in the intracellular ...... recessive retinitis pigmentosa

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Abdul Hameed

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Ahmed Salman

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Andrew H Crosby

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Chi-Chao Chan

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Emma L Baple

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Firoz Kabir

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Frans P M Cremers

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Gaurav V Harlalka

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Gavin Arno

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J Fielding Hejtmancik

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P2860

A conditional knockout resource for the genome-wide study of mouse gene function

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

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

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

De novo-engineered transcription activator-like effector (TALE) hybrid nuclease with novel DNA binding specificity creates double-strand breaks

Analysis of protein-coding genetic variation in 60,706 humans

Structural Basis for Sequence-Specific Recognition of DNA by TAL Effectors

A method and server for predicting damaging missense mutations

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

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e1007504

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scholarly article

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10.1371/JOURNAL.PGEN.1007504

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English

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2018-08-29T00:00:00Z

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30157172

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cancer research

molecular biology

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6133373

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