Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.Expanding the genetic heterogeneity of intellectual disability.

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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

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http://www.wikidata.org/entity/Q38748167

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

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name

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

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type

Item

label

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

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prefLabel

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

@en

P1476

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

@en

P2093

David S Lynch

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Eloise Tribollet

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Fahad A Bashiri

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Henry Houlden

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Indran Davagnanam

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James E Rothman

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Juan A Botía

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M Natalia Zanetti

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Nicholas W Wood

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Nisha Patel

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P2860

Analysis of protein-coding genetic variation in 60,706 humans

Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

Gtx: a novel murine homeobox-containing gene, expressed specifically in glial cells of the brain and germ cells of testis, has a transcriptional repressor activity in vitro for a serum-inducible promoter

CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure

Homeobox gene Nkx2.2 and specification of neuronal identity by graded Sonic hedgehog signalling

Different levels of repressor activity assign redundant and specific roles to Nkx6 genes in motor neuron and interneuron specification

A homeodomain protein code specifies progenitor cell identity and neuronal fate in the ventral neural tube

Spatio-temporal transcriptome of the human brain

Why do many psychiatric disorders emerge during adolescence?

Inborn errors of brain myelin formation.

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scholarly article

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10.1016/J.AJHG.2017.05.009

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English

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100

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P50

Jana Vandrovcova

Mina Ryten

Fowzan S Alkuraya

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2017-06-01T00:00:00Z

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28575651

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P932

5473715

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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

about

P2860

P2860

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932