Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

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The mechanisms of a mammalian splicing enhancer.Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

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Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

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2017 nî lūn-bûn

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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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Mutations of Pre-mRNA Splicing ...... rward to Clinical Diagnostics?

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Mutations of Pre-mRNA Splicing ...... rward to Clinical Diagnostics?

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Mutations of Pre-mRNA Splicing ...... rward to Clinical Diagnostics?

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P1476

Mutations of Pre-mRNA Splicing ...... rward to Clinical Diagnostics?

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Lucie Grodecká

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

Tomáš Freiberger

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Creative Commons Attribution

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Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

Context-dependent control of alternative splicing by RNA-binding proteins

Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

Inference of splicing regulatory activities by sequence neighborhood analysis

A framework for variation discovery and genotyping using next-generation DNA sequencing data

ESEfinder: A web resource to identify exonic splicing enhancers

Predictive identification of exonic splicing enhancers in human genes

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

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scholarly article

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10.3390/IJMS18081668

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English

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

P478

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Emanuele Buratti

T Freiberger

Lucie Grodecka

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ScienceSource

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2017-07-31T00:00:00Z

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P698

28758972

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genetic disease

genetic variation

biomedical investigative technique

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5578058

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Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

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P2860

P2860

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

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type

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P1433

P1476

P2093

P275

P2860

P31

P356

P407

P433

P478

P50

P5008

P577

P698

P921

P932

P356

P1433

P1476

P2093

P275

P2860

P31

P356

P407

P433

P478

P50

P5008

P577

P698

P921

P932