Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.
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Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetranceEvaluating tools for transcription factor binding site prediction.A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.Application of high-throughput sequencing for studying genomic variations in congenital heart disease.Next-generation sequencing in childhood disorders.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Distinct patterns of genetic variations in potential functional elements in long noncoding RNAs.
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P2860
Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Regulatory variations in the e ...... linical molecular diagnostics.
@en
Regulatory variations in the e ...... linical molecular diagnostics.
@nl
type
label
Regulatory variations in the e ...... linical molecular diagnostics.
@en
Regulatory variations in the e ...... linical molecular diagnostics.
@nl
prefLabel
Regulatory variations in the e ...... linical molecular diagnostics.
@en
Regulatory variations in the e ...... linical molecular diagnostics.
@nl
P2860
P356
P1433
P1476
Regulatory variations in the e ...... linical molecular diagnostics.
@en
P2093
Marc Ekker
Olga Jarinova
P2860
P304
P356
10.1002/HUMU.22083
P577
2012-04-16T00:00:00Z