Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.T340A
Back to variants list

CYP27A1

NM_000784.4:p.T340A

Associated Papers

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.

Du K et al.

Cerebellum (london, England), 2026

Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy.

Xin S et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."