Varaico: Literature-Extracted Genetic Variants

Gene:SPNS1
Variant:p.E164K
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SPNS1

NM_032038.3:p.E164K

Associated Papers

Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.

Ha HT et al.

Jci Insight, 2024

An SPNS1-dependent lysosomal lipid transport pathway that enables cell survival under choline limitation.

Scharenberg SG et al.

Science Advances, 2023

Role of galactose in cellular senescence.

Elzi DJ et al.

Experimental Gerontology, 2016

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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."