Varaico: Literature-Extracted Genetic Variants

Gene:SOAT1
Variant:p.K120R
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SOAT1

NM_003101.6:p.K120R

Associated Papers

P53 deficiency affects cholesterol esterification to exacerbate hepatocarcinogenesis.

Zhu Y et al.

Hepatology (baltimore, Md.), 2023

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.

Ono H et al.

Scientific Reports, 2018

29396419 (PubMed )
Supplement: 41598_2018_20691_MOESM1_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."