Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.H192delFs
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LCAT

NM_000229.2:p.H192delFs

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

Longitudinal analysis of clinical and laboratory biomarkers in a patient with familial lecithin: cholesterol acyltransferase deficiency (FLD) and accelerated eGFR decline: A case study.

Alfaro G et al.

Journal of Clinical Lipidology, 0

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