Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E229K
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OPTN

NM_001008212.2:p.E229K

Associated Papers

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

Kumar A et al.

Plos One, 2024

The inheritance of juvenile onset primary open angle glaucoma.

Gupta V et al.

Clinical Genetics, 2017

Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.

Gong B et al.

The British Journal of Ophthalmology, 2015

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E et al.

Molecular Vision, 2013

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 2011

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

López-Garrido MP et al.

Clinical Genetics, 2010

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E et al.

Molecular Vision, 2009

Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes.

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2007

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

López-Garrido MP et al.

Molecular Vision, 2006

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

Melki R et al.

Journal of Medical Genetics, 2004

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

Micheal S et al.

Clinical & Experimental Ophthalmology, 0

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