Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

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Identification of MYLK3 mutations in familial dilated cardiomyopathy.Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.

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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

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http://www.wikidata.org/entity/Q38747853

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

@en

type

Item

label

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

@en

prefLabel

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

@en

P1476

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

@en

P2093

Annick Raas-Rothschild

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

Carlos Lopez-Otın

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

Chana Vinkler

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Concetta Bormans

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Dana Irge

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Doron M Behar

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Einav Tayeb-Fligelman

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Eyal Reinstein

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Mordechai Shohat

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Shai Marcu

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P2860

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

P2888

ejhg.2016.110

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1792-1796

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scholarly article

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10.1038/EJHG.2016.110

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P433

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

P478

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

P50

Meytal Landau

Xose S. Puente

Ana Gutierrez-Fernandez

P577

2016-09-07T00:00:00Z

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P698

27601210

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P921

birth defect

P932

5117915

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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

about

P2860

P2860

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932