Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.G393W
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ATP10B

NM_025153.3:p.G393W

Associated Papers

The potential of deep learning on the discovery of new genes implicated in differences of sex development.

von der Decken I et al.

Computational and Structural Biotechnology Journal, 2026

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

Díaz-Belloso R et al.

Parkinsonism & Related Disorders, 2024

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

Martin S et al.

Acta Neuropathologica, 2020

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J et al.

Molecular Genetics & Genomic Medicine, 2019

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2
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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."