Varaico: Literature-Extracted Genetic Variants

Gene:CYP8B1
Variant:p.R494C
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CYP8B1

NM_004391.3:p.R494C

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS27_het

Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.

Zhong S et al.

The Journal of Clinical Investigation, 2022

36107630 (PubMed )
Supplement: jci-132-152961-s071.pdf
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