Varaico: Literature-Extracted Genetic Variants

Gene:NR1H4
Variant:p.T30A
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NR1H4

NM_001206979.2:p.T30A

Associated Papers

KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing.

Lee WW et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024

Plasticity of the ecdysone receptor DNA binding domain.

Orlowski M et al.

Molecular Endocrinology (baltimore, Md.), 2004

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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."