MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

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Genetic Susceptibility to Bortezomib-Induced Peripheral Neuroropathy: Replication of the Reported Candidate Susceptibility Loci.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

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Q39597050-58D747C6-AD6F-4A7B-9CDB-675D675AC390 Q51585991-3A9CFF66-98B5-4F36-BE86-B614F2153DBF

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MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

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http://www.wikidata.org/entity/Q48437995

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

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MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

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Item

label

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

@en

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

@nl

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MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

@en

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

@nl

P1476

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

@en

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Barbara Plecko

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

Marc Creus

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

Maria T Schmook

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

Rainer Seidl

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

Susanne Greber-Platzer

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

Vassiliki Konstantopoulou

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P2860

Fast and accurate short read alignment with Burrows-Wheeler transform

Structure of the Mediator head module

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

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

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

Prioritization of neurodevelopmental disease genes by discovery of new mutations.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Mutations in MED12 cause X-linked Ohdo syndrome

Iron metabolism in the CNS: implications for neurodegenerative diseases.

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s00431-014-2463-7

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113-118

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scholarly article

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10.1007/S00431-014-2463-7

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P433

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

P478

174

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P50

Andreas Janecke

Julia Vodopiutz

P577

2014-12-03T00:00:00Z

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

P698

25446406

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MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

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P2860

P2860

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698