Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.E169E
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CABP4

NM_145200.5:p.E169E

Associated Papers

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

Chiang PW et al.

Nature Genetics, 2012

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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."