Varaico: Literature-Extracted Genetic Variants

Gene:LSS
Variant:p.S339L
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LSS

NM_002340.6:p.S339L

Associated Papers

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.

Matza Porges S et al.

European Journal of Medical Genetics, 2023

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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."