Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

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Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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Using whole-exome sequencing t ...... diseases of unknown etiology.

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Using whole-exome sequencing t ...... diseases of unknown etiology.

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Using whole-exome sequencing t ...... diseases of unknown etiology.

@en

Using whole-exome sequencing t ...... diseases of unknown etiology.

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Using whole-exome sequencing t ...... diseases of unknown etiology.

@en

Using whole-exome sequencing t ...... diseases of unknown etiology.

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P1476

Using whole-exome sequencing t ...... e diseases of unknown etiology

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P2093

Chang-Gong Liu

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David E Sleat

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Dibyendu Kumar

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Edward H Schuchman

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Jui Wan Loh

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Kimiyo Raymond

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Nan Wang

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Peter Lobel

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Robert Donnelly

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Timothy Lin

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P2860

Integral and associated lysosomal membrane proteins

Exome sequencing identifies the cause of a mendelian disorder

A global reference for human genetic variation

Impairment of homeostasis in lysosomal storage disorders

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

The Sequence Alignment/Map format and SAMtools

TBCK influences cell proliferation, cell size and mTOR signaling pathway

Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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1491-1499

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P31

scholarly article

P356

10.1002/HUMU.23291

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P433

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P478

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P50

Jinchuan Xing

Erika Gedvilaite

P577

2017-07-25T00:00:00Z

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P698

28703315

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