Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.E150V
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CAV3

NM_033337.3:p.E150V

Associated Papers

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy.

Brlek P et al.

Biomedicines, 2023

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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."