Varaico: Literature-Extracted Genetic Variants

Gene:NR1H3
Variant:p.S440C
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NR1H3

NM_005693.4:p.S440C

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_material_040825_FINAL.pdf

Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health.

Lockhart SM et al.

Nature Metabolism, 2024

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z et al.

Neuron, 2016

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