(Q34746794)

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Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

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2 March 2020

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23718193%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

high-throughput sequencing

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based on heuristic

inferred from title

1

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2 March 2020

Josu de la Fuente

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2 March 2020

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Laurence Game

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2 March 2020

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Mikel Valgañón

2

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2 March 2020

Hui En Foong

3

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2 March 2020

Dalia Kasperaviciute

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2 March 2020

Deena Iskander

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2 March 2020

Michael Müller

7

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2 March 2020

Timothy J Aitman

8

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2 March 2020

Irene Roberts

9

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2 March 2020

Letizia Foroni

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2 March 2020

Anastasios Karadimitris

12

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2 March 2020

language of work or name

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publication date

30 May 2013

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2 March 2020

British Journal of Haematology

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2 March 2020

162

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2 March 2020

530-536

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2 March 2020

4

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2 March 2020

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12397

21 January 2018

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