Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.G207S
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LCAT

NM_000229.2:p.G207S

Associated Papers

A novel pathogenic variant in LCAT causing FLD. A case report.

Goñi Ros N et al.

Acta Clinica Belgica, 2022

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Alves AC et al.

Frontiers in Genetics, 2022

Lecithin-Cholesterol Acyltransferase Deficiency as a Rare Cause of Bilateral Corneal Opacities: A Case Report of a Novel Frameshift Mutation.

Mendes J et al.

Case Reports in Ophthalmology, 0

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