Publications:

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

Journal Of Lipid Research

Vitali, Cecilia C; Bajaj, Archna A; Nguyen, Christina C; Schnall, Jill J; Chen, Jinbo J; Stylianou, Kostas K; Rader, Daniel J DJ; Cuchel, Marina M

Publication Date: 2022-03

Variant appearance in text: LCAT: 1123C>T; Arg375Cys

PubMed Link: 35065092

Variant Present in the following documents:

• mmc1.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: LCAT: 1123C>T; Arg375Cys; rs200506753

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research

Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ

Publication Date: 2018-12

Variant appearance in text: LCAT: 1123C>T; R375C

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

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