Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L799delFs
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LDLR

NM_000527.5:p.L799delFs

Associated Papers

Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.

Camp SY et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."