Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.K503E
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CYP7B1

NM_004820.5:p.K503E

Associated Papers

The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa.

Van Tonder C et al.

European Journal of Human Genetics : Ejhg, 2025

40562809 (PubMed )
Supplement: 41431_2025_1900_MOESM3_ESM.pdf
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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."