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English
OMIM.org: leveraging knowledge across phenotype-gene relationships
scientific article published on 01 January 2019
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
title
OMIM.org: leveraging knowledge across phenotype-gene relationships
(English)
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
main subject
phenotype
1 reference
based on heuristic
inferred from title
author name string
Joanna S Amberger
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
Carol A Bocchini
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
Alan F Scott
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
Ada Hamosh
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
publication date
1 January 2019
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
published in
Nucleic Acids Research
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
volume
47
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
issue
D1
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
page(s)
D1038-D1043
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
copyright license
Creative Commons Attribution 4.0 International
start time
16 November 2018
1 reference
stated in
April 2022 Public Data File from Crossref
copyright status
copyrighted
0 references
cites work
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
Disease Ontology: improving and unifying disease annotations across species.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
The Human Phenotype Ontology in 2017
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
Analysis of protein-coding genetic variation in 60,706 humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
ClinGen--the Clinical Genome Resource
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
ClinVar: public archive of relationships among sequence variation and human phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
PubTator: a web-based text mining tool for assisting biocuration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
Aligning knowledge sources in the UMLS: methods, quantitative results, and applications.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6323937
retrieved
11 February 2021
Identifiers
DOI
10.1093/NAR/GKY1151
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
DBLP publication ID
journals/nar/AmbergerBSH19
1 reference
stated in
DBLP Dataset 2021-01-02
retrieved
28 January 2021
PMCID
6323937
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
PubMed ID
30445645
1 reference
stated in
Europe PubMed Central
PMCID
6323937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30445645%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 May 2020
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