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English
Non-penetrance in tuberous sclerosis
scientific article published on 01 May 2000
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
title
Non-penetrance in tuberous sclerosis
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
main subject
tuberous sclerosis
1 reference
based on heuristic
inferred from title
author
Finbar O'Callaghan
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
author name string
J P Osborne
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
A C Jones
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
M W Burley
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
D Jeganathan
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
J Young
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
J R Sampson
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
S Povey
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
language of work or name
English
0 references
publication date
1 May 2000
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
published in
The Lancet
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
volume
355
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
issue
9216
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
page(s)
1698
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
cites work
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902247-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and characterization of the tuberous sclerosis gene on chromosome 16
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902247-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Non-penetrance in tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902247-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902247-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902247-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0140-6736(00)02247-9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
PubMed publication ID
10905251
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10905251
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10905251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
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