Author

Liyuan Guo

Chinese Academy of SciencesORCID 0000-0002-8268-499XUnclaimed ORCID profile · follow to get notified of new preprints

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Liyuan Guo1 paper · Northwest A&F University

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bo Jin· 1 shared Jing WangiD· 1 shared Yidan ZhangiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenetics

Bo Jin

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1 paper

Recent·Most cited

GeneticsMolecular Genetics & Genomic MedicinePeer-reviewedSep 1, 2020

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism

Liyuan Guo, Bo Jin, Yidan Zhang, Jing Wang

The paper identifies a pathogenic ARSA mutation in a Chinese MLD family and shows it disrupts molecular processes like ion binding and vesicle transport.

3 citations

humanwhole-exome sequencing

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