Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.T246fs
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BFSP1

NM_001195.5:p.T246fs

Associated Papers

Mutational analysis of BFSP1, CRYBB1, GALK1, and GJA8 in captive-bred vervet monkeys (Chlorocebus aethiops).

Ngqaneka T et al.

Journal of Medical Primatology, 2020

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

Ramachandran RD et al.

Human Genetics, 2007

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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."