Genetic Advances in Microphthalmia.

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Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

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P2860

Genetic Advances in Microphthalmia.

Item

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description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

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2016年論文

@zh-tw

2016年论文

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2016年论文

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2016年论文

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name

Genetic Advances in Microphthalmia.

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Genetic Advances in Microphthalmia.

@nl

type

Item

label

Genetic Advances in Microphthalmia.

@en

Genetic Advances in Microphthalmia.

@nl

prefLabel

Genetic Advances in Microphthalmia.

@en

Genetic Advances in Microphthalmia.

@nl

P1476

Genetic Advances in Microphthalmia.

@en

P2093

Julie Plaisancie

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Nicolas Chassaing

http://www.w3.org/2001/XMLSchema#string

Patrick Calvas

http://www.w3.org/2001/XMLSchema#string

P2860

Anophthalmia and microphthalmia

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

Homozygous null mutation in ODZ3 causes microphthalmia in humans

Efficient genome editing in zebrafish using a CRISPR-Cas system

GDF6, a novel locus for a spectrum of ocular developmental anomalies

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects

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184-188

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scholarly article

P356

10.1055/S-0036-1592350

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

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2016-09-16T00:00:00Z

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27895970

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5123893

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Genetic Advances in Microphthalmia.

about

P2860

P2860

Genetic Advances in Microphthalmia.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932