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TSC1, TSC2, TSC3? Or mosaicism?
scientific article published on 01 June 2005
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
title
TSC1, TSC2, TSC3? Or mosaicism?
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
author name string
David Kwiatkowski
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
publication date
1 June 2005
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
volume
13
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
page(s)
695-696
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
cites work
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
TSC2: filling the GAP in the mTOR signaling pathway
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EJHG.5201412
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
PubMed publication ID
15912141
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15912141
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912141%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
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