Cone dystrophy in patient with homozygous RP1L1 mutation.

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Cone dystrophy in patient with homozygous RP1L1 mutation.

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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

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Cone dystrophy in patient with homozygous RP1L1 mutation.

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label

Cone dystrophy in patient with homozygous RP1L1 mutation.

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altLabel

Cone Dystrophy in Patient with HomozygousRP1L1Mutation

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prefLabel

Cone dystrophy in patient with homozygous RP1L1 mutation.

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P1476

Cone dystrophy in patient with homozygous RP1L1 mutation

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P2093

Hiroshi Takahashi

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Keiichiro Akeo

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Kunihiko Yamaki

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Sachiko Kikuchi

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Yuko Sugawara

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P2860

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

A map of human genome variation from population-scale sequencing

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

A method and server for predicting damaging missense mutations

Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa

SIFT: Predicting amino acid changes that affect protein function

Retinitis pigmentosa

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

High-resolution retinal imaging of cone-rod dystrophy.

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.

P304

545243

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P31

scholarly article

P356

10.1155/2015/545243

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P407

English

P478

2015

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P50

P577

2015-01-29T00:00:00Z

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P5875

272511395

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25692141

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4322316

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