Varaico: Literature-Extracted Genetic Variants

Gene:CAV1
Variant:p.F167S
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CAV1

NM_001753.5:p.F167S

Associated Papers

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified

Computational screening of pathogenic missense nsSNPs in heme oxygenase 1 (HMOX1) gene and their structural and functional consequences.

Yadav AK et al.

Journal of Biomolecular Structure & Dynamics, 2024

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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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."