Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.L283L
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BFSP1

NM_001278608.2:p.L283L

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

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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."