(Q37033663)

17 August 2017

Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy (English)

1 reference

17 August 2017

Katrina Celis

1

1 reference

17 August 2017

Scott Shuldiner

2

1 reference

17 August 2017

Eden V Haverfield

3

1 reference

17 August 2017

Joshua Cappell

4

1 reference

17 August 2017

Rongze Yang

5

1 reference

17 August 2017

Da-Wei Gong

6

1 reference

17 August 2017

Wendy K Chung

7

1 reference

17 August 2017

3 March 2015

1 reference

Journal of Inherited Metabolic Disease

17 August 2017

1 reference

17 August 2017

38

1 reference

17 August 2017

5

1 reference

17 August 2017

941-948

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-015-9824-x

17 August 2017

0 references

cites work

Genetic basis of intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Exome sequencing and the genetics of intellectual disability.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

A framework for variation discovery and genotyping using next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

The genetic basis of non-syndromic intellectual disability: a review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Alanine aminotransferase isoenzymes: molecular cloning and quantitative analysis of tissue expression in rats and serum elevation in liver toxicity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Expression, purification, and initial characterization of human alanine aminotransferase (ALT) isoenzyme 1 and 2 in High-five insect cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Mice lacking brain/kidney phosphate-activated glutaminase have impaired glutamatergic synaptic transmission, altered breathing, disorganized goal-directed behavior and die shortly after birth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Identification and evaluation of mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Isoforms of alanine aminotransferases in human tissues and serum--differential tissue expression using novel antibodies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Branched-chain amino acid metabolism and alanine formation in rat muscles in vitro. Mitochondrial-cytosolic interrelationships

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Etiological yield of SNP microarrays in idiopathic intellectual disability

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919120

10.1007/S10545-015-9824-X

4 September 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

25758935

1 reference