(Q35446248)

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Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

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scholarly article

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30 December 2019

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Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15235039%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

alternative mRNA splicing, via spliceosome

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based on heuristic

inferred from title

Fransiska Malfait

4

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30 December 2019

author name string

S Symoens

1

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30 December 2019

L Nuytinck

2

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30 December 2019

E Legius

3

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30 December 2019

P J Coucke

5

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A De Paepe

6

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1 July 2004

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30 December 2019

Journal of Medical Genetics

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30 December 2019

41

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30 December 2019

7

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30 December 2019

e96

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30 December 2019

Identifiers

10.1136/JMG.2003.014589

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30 December 2019

1 reference

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30 December 2019

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30 December 2019

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