Varaico: Literature-Extracted Genetic Variants

Gene:CYP1A1
Variant:p.S216C
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CYP1A1

NM_001319217.2:p.S216C

Associated Papers

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures.

Ugartondo N et al.

International Journal of Molecular Sciences, 2021

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

Roca-Ayats N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

Farlow JL et al.

Plos One, 2015

Profiling deleterious non-synonymous SNPs of smoker's gene CYP1A1.

Ramesh AS et al.

Cell Biochemistry and Biophysics, 2013

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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."