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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLAAT3

Variant:p.A96insFs

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PLAAT3

NM_001128203.2:p.A96insFs

hg38:chr11:63590200 G>GC

Associated Papers

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Schuermans N et al.

Nature Genetics, 2023

37919452 (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."