Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

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Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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Deep intronic variation in spl ...... rm survival Cockayne syndrome.

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Deep intronic variation in spl ...... rm survival Cockayne syndrome.

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label

Deep intronic variation in spl ...... rm survival Cockayne syndrome.

@en

Deep intronic variation in spl ...... rm survival Cockayne syndrome.

@nl

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Deep intronic variation in spl ...... rm survival Cockayne syndrome.

@en

Deep intronic variation in spl ...... rm survival Cockayne syndrome.

@nl

P1476

Deep intronic variation in spl ...... rm survival Cockayne syndrome.

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Cathy Obringer

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Géraldine Greff

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Hélène Dollfus

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Jamel Chelly

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Nathalie Drouot

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Vincent Laugel

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P2860

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

Analysis of protein-coding genetic variation in 60,706 humans

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

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

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

P2888

s41431-017-0009-y

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527-536

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scholarly article

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10.1038/S41431-017-0009-Y

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P433

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P478

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Enrico Bertini

N Calmels

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2018-02-08T00:00:00Z

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29422660

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5891492

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