(Q46766381)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21895641%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities (English)

1 reference

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12 February 2020

9

1 reference

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12 February 2020

M Lyon

3

1 reference

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12 February 2020

author name string

D O Robinson

1

1 reference

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12 February 2020

F Lin

2

1 reference

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12 February 2020

M Raponi

4

1 reference

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12 February 2020

E Cross

5

1 reference

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12 February 2020

H E White

6

1 reference

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12 February 2020

H Cox

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21895641%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

J Clayton-Smith

8

1 reference

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12 February 2020

publication date

30 September 2011

1 reference

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12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21895641%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

82

1 reference

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12 February 2020

issue

3

1 reference

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12 February 2020

page(s)

223-231

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01781.X

A sequencing method based on real-time pyrophosphate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01781.X

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01781.X

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01781.X

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01781.X

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01781.X

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01781.X

10.1111/J.1399-0004.2011.01781.X

21 January 2018

Identifiers

DOI

1 reference

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12 February 2020

1 reference