Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.PI5P and PI(3,5)P2: Minor, but Essential Phosphoinositides.

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Q37218495-357F372C-1173-4371-AB3B-0B014253668C Q39182894-08D983A1-A1CF-475F-B9C9-974D29008039

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Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

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Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

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Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

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label

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

@ast

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

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Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

@ast

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

@en

P1476

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy

@en

P2093

Anthony J Aldave

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Cynthia Wang

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Derek J Le

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Duk-Won D Chung

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Jessica A Gee

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Jonathan Han

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Ricardo F Frausto

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P2860

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy

The spectrin repeat: a structural platform for cytoskeletal protein assemblies

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

IC3D classification of corneal dystrophies--edition 2

Exploring the energy landscape of GFP by single-molecule mechanical experiments.

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.

PrimerBank: a resource of human and mouse PCR primer pairs for gene expression detection and quantification.

PredictProtein--an open resource for online prediction of protein structural and functional features.

A novel PIKFYVE mutation in fleck corneal dystrophy

A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy

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1093-1100

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scholarly article

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Chulaluck Tangmonkongvoragul

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2015-09-17T00:00:00Z

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P698

26396486

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P932

4575904

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Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

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P2860

P2860

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P478

P50

P577

P698

P932

P1433

P1476

P2093

P2860

P304

P31

P478

P50

P577

P698

P932