Intellectual disability associated with a homozygous missense mutation in THOC6
about
The role of TREX in gene expression and diseaseTHOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityFORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Disclosure of genetic research results to members of a founder population.Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationClinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.RNA Nuclear Export: From Neurological Disorders to Cancer.Insights into the ubiquitin-proteasome system of human embryonic stem cells.Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome
P2860
Q28078160-197E2B8D-188D-48EC-83A2-97C97A80CE1DQ28117236-FDCD5178-D793-4A22-88A6-3DB33A708128Q34000906-A8141F98-D5EE-4B1A-9FC1-4FC083444D9BQ35111793-2E22D16B-80BA-470A-BFAA-08F5835910ADQ41925091-7CBECC4D-A244-490E-BFC4-4AC514CA2F51Q41969459-FF92E232-C35F-4E9B-B75E-88B5673EAD70Q46231160-0DAC7773-A58A-4264-857D-9005C1552310Q47907249-324E4C3D-07D7-464F-B5EF-22102FA67D8AQ51765390-9F176065-F16B-45BB-8892-7C7F7C7B09E2Q57573621-93C54537-CE32-4AE5-9164-3C3FB35CEC65
P2860
Intellectual disability associated with a homozygous missense mutation in THOC6
description
2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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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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Intellectual disability associated with a homozygous missense mutation in THOC6
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Intellectual disability associated with a homozygous missense mutation in THOC6
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Intellectual disability associated with a homozygous missense mutation in THOC6
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Intellectual disability associated with a homozygous missense mutation in THOC6
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label
Intellectual disability associated with a homozygous missense mutation in THOC6
@ast
Intellectual disability associated with a homozygous missense mutation in THOC6
@en
Intellectual disability associated with a homozygous missense mutation in THOC6
@en-gb
Intellectual disability associated with a homozygous missense mutation in THOC6
@nl
prefLabel
Intellectual disability associated with a homozygous missense mutation in THOC6
@ast
Intellectual disability associated with a homozygous missense mutation in THOC6
@en
Intellectual disability associated with a homozygous missense mutation in THOC6
@en-gb
Intellectual disability associated with a homozygous missense mutation in THOC6
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Intellectual disability associated with a homozygous missense mutation in THOC6
@en
P2093
A Micheil Innes
Chandree L Beaulieu
Charles Schwartz
D Ross McLeod
Dennis E Bulman
Jacek Majewski
Jillian S Parboosingh
Lijia Huang
Marie-Andree Akimenko
Paul Jerry
P2860
P2888
P3181
P356
10.1186/1750-1172-8-62
P407
P577
2013-01-01T00:00:00Z
P5875
P6179
1003778625