(Q41930441)

14 October 2017

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy (English)

1 reference

disability affecting intellectual abilities

14 October 2017

0 references

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intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

7

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14 October 2017

H Saitsu

10

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Mitsuhiro Kato

object named as

M Kato

4

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author name string

J Nakajima

1

1 reference

14 October 2017

N Okamoto

2

1 reference

14 October 2017

J Tohyama

3

1 reference

14 October 2017

H Arai

5

1 reference

14 October 2017

O Funahashi

6

1 reference

14 October 2017

M Nakashima

8

1 reference

14 October 2017

H Kawashima

9

1 reference

14 October 2017

N Matsumoto

11

1 reference

14 October 2017

N Miyake

12

1 reference

14 October 2017

language of work or name

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29 April 2014

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14 October 2017

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14 October 2017

87

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14 October 2017

4

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14 October 2017

356-361

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Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation

14 October 2017

1 reference

Assignment of human elongation factor 1alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3

21 January 2018

1 reference

The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene

21 January 2018

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Haploinsufficiency for translation elongation factor eEF1A2 in aged mouse muscle and neurons is compatible with normal function.

21 January 2018

1 reference

Translation elongation factor eEF1A2 is a potential oncoprotein that is overexpressed in two-thirds of breast tumours

21 January 2018

1 reference

Identification of putative oncogenes in lung adenocarcinoma by a comprehensive functional genomic approach

21 January 2018

1 reference

The role of protein elongation factor eEF1A2 in ovarian cancer

21 January 2018

1 reference

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

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Predicting deleterious amino acid substitutions

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

1 reference

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

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Structural basis for nucleotide exchange and competition with tRNA in the yeast elongation factor complex eEF1A:eEF1Balpha

21 January 2018

1 reference

eEF1A2 and neuronal degeneration

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12394

1 reference

14 October 2017

1 reference