(Q59273673)

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Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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based on heuristic

inferred from title

progressive myoclonus epilepsy

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based on heuristic

inferred from title

Pilar Gómez-Garre

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Santiago Rodriguez de Córdoba

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

Sanz Y

2

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Europe PubMed Central

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3 November 2019

Serratosa JM

4

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Europe PubMed Central

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3 November 2019

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1 December 2000

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3 November 2019

European Journal of Human Genetics

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

8

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

12

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3 November 2019

946-954

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200571

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Identifiers

10.1038/SJ.EJHG.5200571

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11175283%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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