Varaico: Literature-Extracted Genetic Variants

Gene:CYP8B1
Variant:p.S88P
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CYP8B1

NM_004391.3:p.S88P

Associated Papers

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

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

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.

Deng M et al.

Experimental and Therapeutic Medicine, 2016

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s012.xlsx › all_drug.csv
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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."