Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.P167P
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LCAT

NM_000229.2:p.P167P

Associated Papers

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

Mehta R et al.

Lipids in Health and Disease, 2021

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1

Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.

Hirashio S et al.

Clinical and Experimental Nephrology, 2014

Point mutation (C to T) of the LCAT gene resulting in A140C substitution.

Hirashio S et al.

Journal of Atherosclerosis and Thrombosis, 2010

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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."