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journalStr:"BMC medical genetics"
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/vufind/Search/Results?lookfor=%22Tuberous+sclerosis+complex%22&type=Subject&filter%5B%5D=journalStr%3A%22BMC+medical+genetics%22
/vufind/Search/Results?lookfor=%22Tuberous+sclerosis+complex%22&type=Subject&filter%5B%5D=journalStr%3A%22BMC+medical+genetics%22
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PubPharm (30)
1
A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex
enthalten in:
BMC medical genetics
| 2020
von
He, S.
|
Lv, N.
|
Bao, H.
| +2
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2
A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex
enthalten in:
BMC medical genetics
| 2020
von
He, S.
|
Lv, N.
|
Bao, H.
| +2
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3
A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex
enthalten in:
BMC medical genetics
| 2020
von
He, S.
|
Lv, N.
|
Bao, H.
| +2
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4
Decoding of novel missense TSC2 gene variants using in-silico methods
enthalten in:
BMC medical genetics
| 2019
von
Sudarshan, S.
|
Kumar, M.
|
Kaur, P.
| +7
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5
Decoding of novel missense TSC2 gene variants using in-silico methods
enthalten in:
BMC medical genetics
| 2019
von
Sudarshan, S.
|
Kumar, M.
|
Kaur, P.
| +7
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6
Decoding of novel missense TSC2 gene variants using in-silico methods
enthalten in:
BMC medical genetics
| 2019
von
Sudarshan, S.
|
Kumar, M.
|
Kaur, P.
| +7
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7
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex : a case report
enthalten in:
BMC medical genetics
| 2018
von
Zhang, R.
|
Wang, J.
|
Wang, Q.
| +5
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8
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report
enthalten in:
BMC medical genetics
| 2018
von
Zhang, R.
|
Wang, J.
|
Wang, Q.
| +5
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9
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report
enthalten in:
BMC medical genetics
| 2018
von
Zhang, R.
|
Wang, J.
|
Wang, Q.
| +5
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10
A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex : case report of a Chinese family
enthalten in:
BMC medical genetics
| 2018
von
Wang, F.
|
Xiong, S.
|
Wu, L.
| +3
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Zeitschrift: BMC medical genetics
Medienart
30
Aufsätze
30
E-Artikel
30
E-Ressourcen
Zeitschriftentitel
BMC medical genetics
Thema
13
Tuberous sclerosis complex
10
Journal Article
10
TSC2 protein, human
10
Tuberous Sclerosis Complex 2 Protein
8
Research Support, Non-U.S. Gov't
8
Tuberous Sclerosis Complex
6
TSC2 Gene
6
Tumor Suppressor Proteins
5
Case Reports
5
TSC1 protein, human
5
Tuberous Sclerosis Complex 1 Protein
3
Aberrant splicing
3
Central nervous system (CNS)
3
Cortical tubers
3
Expressivity
3
GAP (GTPase-activating protein)
3
HGMD (human gene mutation database)
3
Multiplex ligation dependent probe amplificatio...
3
Next generation sequencing
3
Novel mutation
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Erscheinungszeitraum
3
2020-
18
2010-2019
9
2000-2009
Erscheinungsjahr(e)
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Sprache
30
Englisch
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