Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.G602R
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BFSP1

NM_001195.5:p.G602R

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

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

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

Li S et al.

Bmc Medical Genetics, 2019

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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."