Clinical utility gene card for: 16p13.11 microdeletion syndrome

about

A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling.

P2860

Q37660908-8553D371-A8AE-4E55-AAE7-8195EE84B6E7

P2860

Clinical utility gene card for: 16p13.11 microdeletion syndrome

Item

http://www.wikidata.org/entity/Q38839935

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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name

Clinical utility gene card for: 16p13.11 microdeletion syndrome

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Clinical utility gene card for: 16p13.11 microdeletion syndrome

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Clinical utility gene card for: 16p13.11 microdeletion syndrome

@en

P1476

Clinical utility gene card for: 16p13.11 microdeletion syndrome

@en

P2093

Joris Andrieux

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P2860

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

The sequence and analysis of duplication-rich human chromosome 16

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Detection of large-scale variation in the human genome

Mitotic spindle regulation by Nde1 controls cerebral cortical size

Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

P2888

ejhg.2013.230

P31

scholarly article

P356

10.1038/EJHG.2013.230

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P433

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P478

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Maria Tropeano

D A Collier

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2013-10-09T00:00:00Z

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257534929

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1013673090

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24105370

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P932

3992581

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Clinical utility gene card for: 16p13.11 microdeletion syndrome

about

P2860

P2860

Clinical utility gene card for: 16p13.11 microdeletion syndrome

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932