Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

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Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

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http://www.wikidata.org/entity/Q52143884

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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

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2016年学术文章

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2016年學術文章

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name

Exome sequencing reveals a nov ...... bility and cerebellar atrophy.

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Exome sequencing reveals a nov ...... bility and cerebellar atrophy.

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Exome sequencing reveals a nov ...... bility and cerebellar atrophy.

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Exome sequencing reveals a nov ...... bility and cerebellar atrophy.

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Exome sequencing reveals a nov ...... bility and cerebellar atrophy.

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Exome sequencing reveals a nov ...... bility and cerebellar atrophy.

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P1476

Exome sequencing reveals a nov ...... ability and cerebellar atrophy

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Angelika Seitz

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Christina Evers

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Christine Fischer

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

Claus R Bartram

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

Georg Gdynia

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

Katrin Hinderhofer

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

Lilian Kaufmann

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

Martin Granzow

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

Michael Elsässer

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

Nagarajan Paramasivam

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P2860

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

A method and server for predicting damaging missense mutations

The Sequence Alignment/Map format and SAMtools

A simple salting out procedure for extracting DNA from human nucleated cells

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1502-1509

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scholarly article

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10.1002/AJMG.A.37632

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English

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170

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Matthias Schlesner

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2016-03-26T00:00:00Z

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27016154

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Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

about

P2860

P2860

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

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P1433

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P2860

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P698