Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.R153*
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ATP10B

NM_025153.3:p.R153*

Associated Papers

Role of ATP10B in Parkinson disease in a cohort from southern Spain.

Díaz-Belloso R et al.

Parkinsonism & Related Disorders, 2024

The lipid flippase ATP10B enables cellular lipid uptake under stress conditions.

Wouters R et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2024

Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism.

Smolders S et al.

Acta Neuropathologica, 2020

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

Martin S et al.

Acta Neuropathologica, 2020

Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Hallengren E et al.

Plos One, 2015

26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."