Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

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NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database.

P2860

Q55001686-D4C465AB-DDC4-47D1-8760-4C473DD37E09

P2860

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Item

http://www.wikidata.org/entity/Q42368959

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

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2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

@zh-cn

name

Molecular analysis of TSC1 and ...... ilies with tuberous sclerosis.

@en

Molecular analysis of TSC1 and ...... ilies with tuberous sclerosis.

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type

Item

label

Molecular analysis of TSC1 and ...... ilies with tuberous sclerosis.

@en

Molecular analysis of TSC1 and ...... ilies with tuberous sclerosis.

@nl

prefLabel

Molecular analysis of TSC1 and ...... ilies with tuberous sclerosis.

@en

Molecular analysis of TSC1 and ...... ilies with tuberous sclerosis.

@nl

P1476

Molecular analysis of TSC1 and ...... milies with tuberous sclerosis

@en

P2093

Cristina Brinckmann Oliveira Netto

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Fernanda Veiga de Goes

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Filippo Vairo

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Henrique de Campos Reis Galvão

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Isabel Cristina Bandeira

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João I C F Neri

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Larissa Souza Mario Bueno

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Maria Isabel Achatz

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Mireille Caroline Silva de Miranda Gomes

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Patricia Ashton-Prolla

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P2860

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Mutation and cancer: statistical study of retinoblastoma

The Catalogue of Somatic Mutations in Cancer (COSMIC)

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference

P304

e0185713

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scholarly article

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10.1371/JOURNAL.PONE.0185713

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English

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P478

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Clévia Rosset

P577

2017-10-02T00:00:00Z

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28968464

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5624610

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Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

about

P2860

P2860

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932