Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S849*
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LDLR

NM_000527.5:p.S849*

Associated Papers

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.

Souter V et al.

Circulation. Genomic and Precision Medicine, 2024

38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx

Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.

Sabatel-Pérez F et al.

Journal of Clinical Medicine, 2021

33668494 (PubMed )
Supplement: jcm-10-00749-s001.pdf

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M et al.

Metabolism: Clinical and Experimental, 2016

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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."