Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.E230K
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CYP1B1

NM_000104.4:p.E230K

Associated Papers

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.

Ou Z et al.

Bioscience Reports, 2018

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Chouiter L et al.

Journal of Pediatric Genetics, 2017

CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.

Chen X et al.

The British Journal of Ophthalmology, 2014

Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci.

Acharya M et al.

Journal of Genetics, 2008

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.

Flintoff K et al.

Human Genetics, 2007

Gene symbol: ALMS1.

Flintoff KJ et al.

Human Genetics, 2007

Gene symbol: ABCD1.

Dvorakova L et al.

Human Genetics, 2007

Gene symbol: VHL.

Mavrogiannis LA et al.

Human Genetics, 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."