Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.E375delFs
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BFSP1

NM_001195.5:p.E375delFs

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

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

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."