(Q34713545)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

4

1 reference

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26 December 2019

author name string

Martin Wildeman

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Ernest van Ophuizen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Johan T den Dunnen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

publication date

1 January 2008

1 reference

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26 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

page(s)

6-13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

26 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

Recommendations of the 2006 Human Variome Project meeting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

HGVbase: a curated resource describing human DNA variation and phenotype relationships

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

PAHdb: a locus-specific knowledgebase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

Guidelines for human gene nomenclature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20654

7 January 2021

Identifiers

DOI

10.1002/HUMU.20654

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18000842%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference