Varaico: Literature-Extracted Genetic Variants

Gene:HPS3
Variant:p.T379M
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HPS3

NM_032383.5:p.T379M

Associated Papers

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.

Woertz EN et al.

Investigative Ophthalmology & Visual Science, 2024

38441889 (PubMed )
Supplement: iovs-65-3-3_s001.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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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."