Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D578N
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GNE

NM_005476.7:p.D578N

Associated Papers

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

Bottega R et al.

Haematologica, 2022

34788986 (PubMed )
Supplement: 2021_279689_BOTTEGA_SUPPL.pdf

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
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