Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
about
Human mutations in integrator complex subunits link transcriptome integrity to brain development.Emerging issues in disorders/differences of sex development (DSD).Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.PARN Modulates Y RNA Stability and Its 3'-End Formation.Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860
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P2860
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
description
2017 nî lūn-bûn
@nan
2017 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
name
Biallelic mutations in the 3' ...... er a role in snRNA processing.
@ast
Biallelic mutations in the 3' ...... er a role in snRNA processing.
@en
type
label
Biallelic mutations in the 3' ...... er a role in snRNA processing.
@ast
Biallelic mutations in the 3' ...... er a role in snRNA processing.
@en
prefLabel
Biallelic mutations in the 3' ...... er a role in snRNA processing.
@ast
Biallelic mutations in the 3' ...... er a role in snRNA processing.
@en
P2093
P2860
P50
P921
P356
P1433
P1476
Biallelic mutations in the 3' ...... er a role in snRNA processing.
@en
P2093
Ahmet Okay Çağlayan
Anne Gregor
Ari Widjaja
Basak Rosti
Damir Musaev
David Chitayat
David Manchester
David Traver
Eric J Bennett
Eric L Van Nostrand
P2860
P2888
P304
P356
10.1038/NG.3762
P407
P50
P5008
P577
2017-01-16T00:00:00Z