Concepedia

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features

Jia Lun Lim, Katja Lohmann, Ai Huey Tan, Yi Wen Tay, Khairul Azmi Ibrahim, Zariah Abdul Aziz, Ahmad Shahir Mawardi, Santhi Datuk Puvanarajah, Thien Thien Lim, Irene Looi,

Journal of Neural Transmission · 2021 · 36 citations · 45 references

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References

45

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

, , +15

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

Yongwook Choi, Agnes P. Chan · Bioinformatics · 2015 · 2.7K citations · Full text

, , +14

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky, Mike A. Nalls, Jan Aasly et al. · New England Journal of Medicine · 2009 · 2.1K citations · Full text

, , +14

VarSome: the human genomic variant search engine

Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris et al. · Bioinformatics · 2018 · 1.9K citations · Full text

, , +14