(Q35755776)

10 August 2017

The challenge of documenting mutation across the genome: the human genome variation society approach (English)

1 reference

10 August 2017

Ourania Horaitis

1

1 reference

PubMed ID

15108276

10 August 2017

Richard G H Cotton

series ordinal

2

1 reference

10 August 2017

1 May 2004

1 reference

10 August 2017

1 reference

10 August 2017

23

1 reference

10 August 2017

447-452

1 reference

10 August 2017

5

1 reference

The load of genetic and partially genetic disorders in man. I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life.

10 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Proof of "disease causing" mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Quality control in the discovery, reporting, and recording of genomic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Online Mendelian Inheritance in Man (OMIM).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

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.20038

7 January 2021

The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Guidelines and recommendations for content, structure, and deployment of mutation databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Database for the mutations of the Finnish disease heritage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Arab genetic disease database (AGDDB): a population-specific clinical and mutation database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20038

7 January 2021

Identifiers

DOI

10.1002/HUMU.20038

1 reference

release_juf3n42jnjdb5cetg7yuox3yge

10 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/juf3n42jnjdb5cetg7yuox3yge

24 November 2022

mapped directly with Wikidata item

PubMed ID

15108276

1 reference

PubMed ID

15108276