Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

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Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

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Q57292499-54A69B22-3951-44C2-B92A-36ACF58FC417

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Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

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Novel copy number variation of ...... by next-generation sequencing

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Novel copy number variation of ...... by next-generation sequencing

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Novel copy number variation of ...... by next-generation sequencing

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P1476

Novel copy number variation of ...... by next-generation sequencing

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Aijie Liu

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Haipo Yang

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Hui Jiao

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Jiangxi Xiao

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Shuo Wang

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Xiaona Fu

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Xiaoqing Li

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Xiru Wu

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Yanling Yang

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P2860

Initial sequencing and analysis of the human genome

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A method and server for predicting damaging missense mutations

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

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s41598-017-07349-8

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7056

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scholarly article

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10.1038/S41598-017-07349-8

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English

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Hui Xiong

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2017-08-01T00:00:00Z

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1090937240

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28765568

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5539251

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Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

about

P2860

P2860

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P6179

P698

P932