Varaico: Literature-Extracted Genetic Variants

Gene:FADS3
Variant:p.D129N
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FADS3

NM_021727.5:p.D129N

Associated Papers

Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.

Dijk W et al.

Circulation, 2022

35899625 (PubMed )
Supplement: cir-146-724-s002.xlsx › ST1.3_Dysliseq

Mutations in sphingolipid metabolism genes are associated with ADHD.

Henriquez-Henriquez M et al.

Translational Psychiatry, 2020

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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."