(Q44468603)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

0 references

5

1 reference

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8 February 2020

author name string

Sarah Berwouts

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Michael A Morris

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Emmanuelle Girodon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Martin Schwarz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Elisabeth Dequeker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

publication date

17 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

1197-1203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21796730%20AND%20SRC:MED&resulttype=core&format=json

UMD-CFTR: a database dedicated to CF and CFTR-related disorders

8 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21569

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21569

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21569

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21569

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21569

Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21569