Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D129delFs
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LDLR

NM_000527.5:p.D129delFs

Associated Papers

Generation of a transgene-free Induced pluripotent stem (iPS) cell line (JNCHi002-A) from a female heterozygous carrier of the low density lipoprotein receptor (LDLR) gene mutation (c.387delC).

Tian R et al.

Stem Cell Research, 2025

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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."