Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.I399V
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CYP1B1

NM_000104.4:p.I399V

Associated Papers

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Shahid M et al.

Peerj, 2022

36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › PANTHER

Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.

Narooie-Nejad M et al.

Molecular Vision, 2009

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

Chitsazian F et al.

The Journal of Molecular Diagnostics : Jmd, 2007

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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."