Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

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Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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Copy number variation of the R ...... iant or susceptibility factor?

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Copy number variation of the R ...... iant or susceptibility factor?

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Copy number variation of the R ...... iant or susceptibility factor?

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Copy number variation of the R ...... iant or susceptibility factor?

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Copy number variation of the R ...... iant or susceptibility factor?

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Copy number variation of the R ...... iant or susceptibility factor?

@nl

P1476

Copy number variation of the R ...... iant or susceptibility factor?

@en

P2093

Andrew J Sharp

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Christine Tyson

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John C K Barber

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P2860

Global variation in copy number in the human genome

Analysis of the largest tandemly repeated DNA families in the human genome.

Characterising and predicting haploinsufficiency in the human genome.

Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.

Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Human gene copy number variation and infectious disease.

P2888

ejhg.2016.104

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8-9

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scholarly article

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10.1038/EJHG.2016.104

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P478

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P50

Edward J Hollox

P577

2016-01-01T00:00:00Z

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P698

27485411

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P932

5159753

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