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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPNS1

Variant:p.Q48_R49insFs

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SPNS1

NM_032038.3:p.Q48_R49insFs

hg38:chr16:28975293 C>CAGCG

Associated Papers

SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.

He M et al.

The Journal of Clinical Investigation, 2025

40608416 (PubMed )

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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."