Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.C259S
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BFSP1

NM_001195.5:p.C259S

Associated Papers

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Javadiyan S et al.

Molecular Genetics & Genomic Medicine, 2018

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."