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Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?

Overview of attention for article published in Journal of Applied Genetics, September 2018
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Title
Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?
Published in
Journal of Applied Genetics, September 2018
DOI 10.1007/s13353-018-0465-2
Pubmed ID
Authors

Robert P. Erickson

Abstract

Early onset Niemann-Pick C diseases are extremely rare, especially Niemann-Pick C2. Perhaps unusually for autosomal recessive diseases, heterozygotes for mutations in NPC1 manifest many biological variations. NPC2 deficiency has large effects on fertility. These features of NPC1 and NPC2 are reviewed in regard to possible negative selection for heterozygotes carrying null and hypomorphic alleles.

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The data shown below were collected from the profile of 1 X user 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 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 21%
Student > Master 3 16%
Student > Doctoral Student 2 11%
Student > Postgraduate 2 11%
Student > Ph. D. Student 1 5%
Other 2 11%
Unknown 5 26%
Readers by discipline Count As %
Medicine and Dentistry 4 21%
Biochemistry, Genetics and Molecular Biology 3 16%
Nursing and Health Professions 3 16%
Agricultural and Biological Sciences 1 5%
Linguistics 1 5%
Other 0 0%
Unknown 7 37%
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 14 September 2018.
All research outputs
#20,533,292
of 23,103,436 outputs
Outputs from Journal of Applied Genetics
#319
of 395 outputs
Outputs of similar age
#294,173
of 337,955 outputs
Outputs of similar age from Journal of Applied Genetics
#10
of 12 outputs
Altmetric has tracked 23,103,436 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 395 research outputs from this source. They receive a mean Attention Score of 3.0. This one is in the 1st percentile – i.e., 1% 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 337,955 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 12 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.