(Q59697075)

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SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

scientific article published on 01 February 2000

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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:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

Cobben JM

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Mensink RG

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Stulp RP

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

van der Steege G

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Buys CH

6

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 February 2000

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

8

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Europe PubMed Central

PubMed publication ID

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5 November 2019

2

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

79-86

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10757638%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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