Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.D348N
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BFSP1

NM_001195.5:p.D348N

Associated Papers

Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.

Saba N et al.

Molecular Biology Reports, 2026

D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.

Wang H et al.

Cell Biochemistry and Biophysics, 2023

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.

Li S et al.

Bmc Medical Genetics, 2019

A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.

Wang H et al.

Molecular Vision, 2013

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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."