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A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2013
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Title
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient
Published in
Orphanet Journal of Rare Diseases, July 2013
DOI 10.1186/1750-1172-8-108
Pubmed ID
Authors

Taimoor I Sheikh, Kirti Mittal, Mary J Willis, John B Vincent

Abstract

Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype.

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X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
China 1 2%
Brazil 1 2%
Unknown 51 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 12 23%
Researcher 10 19%
Student > Master 6 11%
Student > Doctoral Student 5 9%
Student > Bachelor 5 9%
Other 7 13%
Unknown 8 15%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 12 23%
Medicine and Dentistry 12 23%
Agricultural and Biological Sciences 10 19%
Nursing and Health Professions 2 4%
Neuroscience 2 4%
Other 4 8%
Unknown 11 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 25 June 2014.
All research outputs
#15,274,524
of 22,714,025 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,777
of 2,603 outputs
Outputs of similar age
#121,555
of 196,950 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#23
of 32 outputs
Altmetric has tracked 22,714,025 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,603 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 23rd percentile – i.e., 23% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 196,950 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 32 others from the same source and published within six weeks on either side of this one. This one is in the 15th percentile – i.e., 15% of its contemporaries scored the same or lower than it.