Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

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Identification of novel candidate disease genes from de novo exonic copy number variants.

P2860

Q41692239-F15A7ECF-C85C-44EB-8760-0D4918778C2A

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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

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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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2016年學術文章

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2016年學術文章

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name

Congenital heart defects and l ...... -of-function variants in NONO.

@en

Congenital heart defects and l ...... -of-function variants in NONO.

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type

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Congenital heart defects and l ...... -of-function variants in NONO.

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Congenital heart defects and l ...... -of-function variants in NONO.

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Congenital heart defects and l ...... -of-function variants in NONO.

@en

Congenital heart defects and l ...... -of-function variants in NONO.

@nl

P1476

Congenital heart defects and l ...... -of-function variants in NONO.

@en

P2093

Alejandro D Iglesias

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

Amyn K Jiwani

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

Andres Hernandez-Garcia

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

Bibhuti Das

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

Bum Jun Kim

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

Daryl A Scott

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

Fan Xia

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

James R Lupski

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

Jinglan Zhang

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

Lee-Jun Wong

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P2860

Purification and cDNA cloning of HeLa cell p54nrb, a nuclear protein with two RNA recognition motifs and extensive homology to human splicing factor PSF and Drosophila NONA/BJ6

Dendritic location of neural BC1 RNA

Altered nuclear retention of mRNAs containing inverted repeats in human embryonic stem cells: functional role of a nuclear noncoding RNA

The multifunctional protein p54nrb/PSF recruits the exonuclease XRN2 to facilitate pre-mRNA 3' processing and transcription termination

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs

AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism

Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells

A copy number variation morbidity map of developmental delay

Transcriptional activity of androgen receptor is modulated by two RNA splicing factors, PSF and p54nrb.

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47-53

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scholarly article

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10.1136/JMEDGENET-2016-104039

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English

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Jill A Rosenfeld

Amy M. Breman

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2016-08-22T00:00:00Z

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27550220

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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

about

P2860

P2860

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

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