about
Titin-truncating variants affect heart function in disease cohorts and the general population.Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
P2860
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
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2015年學術文章
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2015年學術文章
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2015年學術文章
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name
Tackling the achilles' heel of genetic testing.
@en
Tackling the achilles' heel of genetic testing.
@nl
type
label
Tackling the achilles' heel of genetic testing.
@en
Tackling the achilles' heel of genetic testing.
@nl
prefLabel
Tackling the achilles' heel of genetic testing.
@en
Tackling the achilles' heel of genetic testing.
@nl
P2860
P1476
Tackling the achilles' heel of genetic testing.
@en
P2860
P304
P356
10.1126/SCITRANSLMED.AAA4276
P407
P577
2015-01-01T00:00:00Z