Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.R287W
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BFSP2

NM_003571.4:p.R287W

Associated Papers

Identification of pathogenic variants for the development of ultra-long axial length in myopic children.

Zhu Y et al.

Plos One, 2025

Effects of truncations in the N- and C-terminal domains of filensin on filament formation with phakinin in cell-free conditions and cultured cells.

Tashiro M et al.

Febs Open Bio, 2023

A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.

Liu Q et al.

Current Eye Research, 2014

Functions of the intermediate filament cytoskeleton in the eye lens.

Song S et al.

The Journal of Clinical Investigation, 2009

A novel mutation in CRYBB2 responsible for inherited coronary cataract.

Lou D et al.

Eye (london, England), 2009

Insights into the beaded filament of the eye lens.

Perng MD et al.

Experimental Cell Research, 2007

A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.

Liu Y et al.

Investigative Ophthalmology & Visual Science, 2006

Genetics of childhood cataract.

Francis PJ et al.

Current Opinion in Ophthalmology, 2004

Molecular genetics of cataract.

Hejtmancik JF et al.

Developments in Ophthalmology, 2003

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.

Conley YP et al.

American Journal of Human Genetics, 2000

[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].

PECCININI D

Arquivos Brasileiros De Oftalmologia, 1964

Molecular genetic basis of inherited cataract and associated phenotypes.

Reddy MA et al.

Survey of Ophthalmology, 0

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

The genetic and molecular basis of congenital cataract.

Santana A et al.

Arquivos Brasileiros De Oftalmologia, 0

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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."