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A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

Overview of attention for article published in BMC Medical Genomics, May 2020
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Title
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
Published in
BMC Medical Genomics, May 2020
DOI 10.1186/s12881-020-01039-5
Pubmed ID
Authors

Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 22%
Student > Ph. D. Student 3 17%
Other 2 11%
Student > Doctoral Student 1 6%
Unspecified 1 6%
Other 2 11%
Unknown 5 28%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 17%
Neuroscience 3 17%
Nursing and Health Professions 2 11%
Unspecified 1 6%
Immunology and Microbiology 1 6%
Other 3 17%
Unknown 5 28%