Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.Y469fs
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CYP7B1

NM_004820.5:p.Y469fs

Associated Papers

Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.

Tang YP et al.

Bmc Gastroenterology, 2021

Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.

Hong J et al.

Journal of Korean Medical Science, 2018

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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."