Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia (Q21144959)

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Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

Language	Label	Description	Also known as
English	Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia	scientific article	Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

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scholarly article

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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia (English)

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4

object named as

Tony J Kenna

author given names

Tony J

author last names

Kenna

1 reference

PubMed publication ID

17 August 2022

7

object named as

Emma L Duncan

author given names

Emma L

author last names

Duncan

1 reference

PubMed publication ID

17 August 2022

Matthew A. Brown

8

object named as

Matthew A Brown

author given names

Matthew A

author last names

Brown

1 reference

PubMed publication ID

17 August 2022

object named as

Gethin P Thomas

5

author given names

Gethin P

author last names

Thomas

1 reference

PubMed publication ID

17 August 2022

author name string

Evgeny A Glazov

1

author given names

Evgeny A

author last names

Glazov

1 reference

PubMed publication ID

17 August 2022

Andreas Zankl

2

author given names

Andreas

author last names

Zankl

1 reference

PubMed publication ID

17 August 2022

Marina Donskoi

3

author given names

Marina

author last names

Donskoi

1 reference

PubMed publication ID

17 August 2022

Graeme R Clark

6

author given names

Graeme R

author last names

Clark

1 reference

PubMed publication ID

17 August 2022

language of work or name

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publication date

March 2011

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7

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3

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e1002027

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copyright license

Creative Commons Attribution 4.0 International

24 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

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Exome sequencing identifies the cause of a mendelian disorder

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19 March 2017

Targeted capture and massively parallel sequencing of 12 human exomes

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19 March 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

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1 reference

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Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex

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Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism

1 reference

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

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19 March 2017

The Sequence Alignment/Map format and SAMtools

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19 March 2017

Functional characterization of the conserved amino acids in Pop1p, the largest common protein subunit of yeast RNases P and MRP

1 reference

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19 March 2017

The POP1 gene encodes a protein component common to the RNase MRP and RNase P ribonucleoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063761

19 March 2017

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063761

19 March 2017

Determination of lymphocyte division by flow cytometry

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7 April 2017

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

1 reference

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12 September 2017

Of proteins and RNA: the RNase P/MRP family

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12 September 2017

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

1 reference

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Mapping and identification of essential gene functions on the X chromosome of Drosophila

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

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21 January 2018

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature

1 reference

https://pubmed.ncbi.nlm.nih.gov/21455487

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1002027

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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