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Exome sequencing in Brown-Vialetto-van Laere syndrome
scientific article
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instance of
scholarly article
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title
Exome sequencing in Brown-Vialetto-van Laere syndrome
(English)
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main subject
Brown-Vialetto-Van Laere syndrome
1 reference
based on heuristic
inferred from title
author
Henry Houlden
series ordinal
4
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Lionel Van Maldergem
series ordinal
3
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Andrew Singleton
series ordinal
5
object named as
Andrew B Singleton
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J Raphael Gibbs
series ordinal
2
object named as
J Raphael Gibbs
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author name string
Janel O Johnson
series ordinal
1
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language of work or name
English
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publication date
8 October 2010
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published in
American Journal of Human Genetics
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volume
87
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page(s)
567-9; author reply 569-70
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issue
4
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cites work
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948797
retrieved
24 March 2017
Fast and accurate short read alignment with Burrows-Wheeler transform
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948797
retrieved
24 March 2017
Brown-Vialetto-Van Laere syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948797
retrieved
24 March 2017
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948797
retrieved
24 March 2017
The Sequence Alignment/Map format and SAMtools
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948797
retrieved
24 March 2017
Identifiers
DOI
10.1016/J.AJHG.2010.05.021
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PMCID
2948797
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PubMed ID
20920669
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ResearchGate publication ID
47335876
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