Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.G329S
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CYP1B1

NM_000104.4:p.G329S

Associated Papers

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.

Shah M et al.

Journal of Clinical Medicine, 2022

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Haddad A et al.

European Journal of Ophthalmology, 2021

Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry.

Yang Y et al.

Ebiomedicine, 2019

31629678 (PubMed )
Supplement: mmc1.pdf

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

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

Chouiter L et al.

Journal of Pediatric Genetics, 2017

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

Banerjee A et al.

Plos One, 2016

A clinical and molecular genetics study of primary congenital glaucoma in South Korea.

Suh W et al.

The British Journal of Ophthalmology, 2012

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ et al.

Molecular Vision, 2011

Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma.

Jeannot E et al.

Cancer Research, 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."