Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.Y351C
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LCAT

NM_000229.2:p.Y351C

Associated Papers

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Vitali C et al.

Journal of Lipid Research, 2022

35065092 (PubMed )
Supplement: mmc1.pdf

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Mehta R et al.

Lipids in Health and Disease, 2021

Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease.

Ustaoglu M et al.

Cornea, 2019

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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."