Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
about
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesProgress and challenges in diagnosis of dysferlinopathy.The current state of clinical interpretation of sequence variants.Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
P2860
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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name
Are all the previously reporte ...... ar dystrophy genes pathogenic?
@ast
Are all the previously reporte ...... ar dystrophy genes pathogenic?
@en
type
label
Are all the previously reporte ...... ar dystrophy genes pathogenic?
@ast
Are all the previously reporte ...... ar dystrophy genes pathogenic?
@en
prefLabel
Are all the previously reporte ...... ar dystrophy genes pathogenic?
@ast
Are all the previously reporte ...... ar dystrophy genes pathogenic?
@en
P2093
P2860
P356
P1476
Are all the previously reporte ...... ar dystrophy genes pathogenic?
@en
P2093
Arcomaria Garofalo
Giuseppina Di Fruscio
Margherita Mutarelli
P2860
P2888
P356
10.1038/EJHG.2015.76
P577
2015-04-22T00:00:00Z