(Q31103056)

28 June 2017

PhenCode: connecting ENCODE data with mutations and phenotype (English)

1 reference

28 June 2017

1 reference

26

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28 June 2017

10

Heather Trumbower

0 references

Laura Elnitski

8

object named as

Laura Elnitski

0 references

Charles R. Scriver

17

object named as

Charles Scriver

1 reference

28 June 2017

Mauno Vihinen

22

0 references

Webb Miller

25

object named as

Webb Miller

1 reference

28 June 2017

13

George P Patrinos

1 reference

28 June 2017

1

Belinda Giardine

1 reference

28 June 2017

15

Doug Higgs

1 reference

28 June 2017

24

Jim Kent

1 reference

28 June 2017

2

Cathy Riemer

1 reference

28 June 2017

16

David Chui

1 reference

28 June 2017

12

Robert Kuhn

1 reference

28 June 2017

Tim Hefferon

3

1 reference

28 June 2017

Daryl Thomas

4

1 reference

28 June 2017

Fan Hsu

5

1 reference

28 June 2017

Julian Zielenski

6

1 reference

28 June 2017

Yunhua Sang

7

1 reference

28 June 2017

Garry Cutting

9

1 reference

28 June 2017

Andrew Kern

11

1 reference

28 June 2017

Jim Hughes

14

1 reference

28 June 2017

Manyphong Phommarinh

18

1 reference

28 June 2017

Santosh K Patnaik

19

1 reference

28 June 2017

Olga Blumenfeld

20

1 reference

28 June 2017

Bruce Gottlieb

21

1 reference

28 June 2017

Jouni Väliaho

23

1 reference

28 June 2017

language of work or name

1 reference

1 June 2007

1 reference

28 June 2017

1 reference

28 June 2017

28

1 reference

28 June 2017

554-562

1 reference

28 June 2017

6

1 reference

The SWISS-PROT protein sequence database and its supplement TrEMBL in 2000.

28 June 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The HUGO Mutation Database Initiative

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The ENCODE (ENCyclopedia Of DNA Elements) Project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

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.20484

7 January 2021

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

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.20484

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.20484

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20484

1 reference

7 January 2021

A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The UCSC Table Browser data retrieval tool

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

BLAT—The BLAST-Like Alignment Tool

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The human genome browser at UCSC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The APOA1/C3/A4/A5 gene cluster, lipid metabolism and cardiovascular disease risk.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Human sequence variation and mutation databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Locus control regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

DNA, diseases and databases: disastrously deficient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

PAHdb 2003: what a locus-specific knowledgebase can do.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

An erythroid-specific, developmental-stage-independent enhancer far upstream of the human "beta-like globin" genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Ser19-->Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The EBI SRS server-new features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Identifiers

DOI

10.1002/HUMU.20484

1 reference

28 June 2017

1 reference