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TP63 gene mutation in ADULT syndrome
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
title
TP63 gene mutation in ADULT syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
main subject
ADULT syndrome
1 reference
based on heuristic
inferred from title
author
Jeanne Amiel
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Stanislas Lyonnet
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
author name string
Bougeard G
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Francannet C
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Raclin V
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Munnich A
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Frebourg T
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
language of work or name
English
0 references
publication date
1 August 2001
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
volume
9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
issue
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
page(s)
642-645
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
exact match
https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200676
0 references
cites work
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ADULT syndrome allelic to limb mammary syndrome (LMS)?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200676
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EJHG.5200676
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Dimensions Publication ID
1046330633
0 references
PubMed publication ID
11528512
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11528512
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
ResearchGate publication ID
11816562
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