6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

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Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

P2860

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P2860

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

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http://www.wikidata.org/entity/Q53318548

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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name

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

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6q25.1

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type

Item

label

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

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6q25.1

@nl

prefLabel

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

@en

6q25.1

@nl

P1476

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy

@en

P2093

Andrew Cheng

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Hiba Risheg

http://www.w3.org/2001/XMLSchema#string

Jill Rosenfeld

http://www.w3.org/2001/XMLSchema#string

Mary Beth P Dinulos

http://www.w3.org/2001/XMLSchema#string

McKenna Kyriss

http://www.w3.org/2001/XMLSchema#string

Peter H Byers

http://www.w3.org/2001/XMLSchema#string

Suneeta Madan-Khetarpal

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Whitney Neufeld-Kaiser

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P2860

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Direct activation of protein kinases by unanchored polyubiquitin chains

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Genetics of congenital heart disease: the glass half empty

Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Characterising and predicting haploinsufficiency in the human genome.

Hypoplastic left heart syndrome is heritable.

Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve

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1848-1857

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scholarly article

P356

10.1002/AJMG.A.38254

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English

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173

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Yajuan J Liu

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2017-05-02T00:00:00Z

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28464518

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6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

about

P2860

P2860

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

description

name

type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698