Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K730fs
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LDLR

NM_000527.5:p.K730fs

Associated Papers

The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.

Gazzotti M et al.

Frontiers in Genetics, 2022

35795214 (PubMed )
Supplement: DataSheet1.docx

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

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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."