Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.R89W
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BFSP2

NM_003571.4:p.R89W

Associated Papers

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

Pathogenic genetic variants identified in Australian families with paediatric cataract.

Jones JL et al.

Bmj Open Ophthalmology, 2022

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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."