Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R290fs
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CYP1B1

NM_000104.4:p.R290fs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.

Ahmad S et al.

Scientific Reports, 2025

40169658 (PubMed )
Supplement: 41598_2025_85913_MOESM3_ESM.docx

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Blue EE et al.

Birth Defects Research, 2024

Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.

Sheikh SA et al.

Molecular Vision, 2014

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."