Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.S540_*541delFs
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BFSP1

NM_001161705.2:p.S540_*541delFs

Associated Papers

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Prokudin I et al.

European Journal of Human Genetics : Ejhg, 2014

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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."