Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S849_R850Splc
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LDLR

NM_000527.5:p.S849_R850Splc

Associated Papers

Evinacumab and reduced lipoprotein apheresis in pediatric homozygous familial hypercholesterolemia: a retrospective study on LDL-C.

Nigmann C et al.

Atherosclerosis, 2025

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Setia N et al.

Atherosclerosis, 2016

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Reddy LL et al.

Indian Heart Journal, 0

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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."