Variants affecting exon skipping contribute to complex traits. (Q34469030)

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17 February 2020

title

Variants affecting exon skipping contribute to complex traits (English)

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17 February 2020

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2

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17 February 2020

Yves A. Lussier

8

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17 February 2020

7

Nancy J Cox

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17 February 2020

author name string

Younghee Lee

1

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17 February 2020

Ellen Rebman

3

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17 February 2020

Yeunsook Lee

4

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17 February 2020

Sanghyuk Lee

5

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17 February 2020

M Eileen Dolan

6

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17 February 2020

publication date

25 October 2012

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17 February 2020

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17 February 2020

volume

8

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17 February 2020

issue

10

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17 February 2020

page(s)

e1002998

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Creative Commons Attribution 4.0 International

17 February 2020

copyright license

start time

25 October 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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A novel bipartite intronic splicing enhancer promotes the inclusion of a mini-exon in the AMP deaminase 1 gene

6 July 2018

1 reference

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Alternative Splicing of the Fibronectin EIIIB Exon Depends on Specific TGCATG Repeats

6 July 2018

1 reference

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Regulation of alternative pre-mRNA splicing by a novel repeated hexanucleotide element

6 July 2018

1 reference

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The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

6 July 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1002998

Effective exon skipping and restoration of dystrophin expression by peptide nucleic acid antisense oligonucleotides in mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1002998

Genome-wide analysis of transcript isoform variation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1002998

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1002998

p53 is activated in response to disruption of the pre-mRNA splicing machinery.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3486879

A Germline DNA Polymorphism Enhances Alternative Splicing of theKLF6Tumor Suppressor Gene and Is Associated with Increased Prostate Cancer Risk

27 October 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1002998

An intronic downstream enhancer promotes 3' splice site usage of a neural cell-specific exon

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23133393

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23133393

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23133393 AND SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23133393 AND SRC:MED&resulttype=core&format=json

17 February 2020

PubMed publication ID

23133393

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23133393 AND SRC:MED&resulttype=core&format=json