Varaico: Literature-Extracted Genetic Variants

Gene:FAM168B
Variant:p.A158T
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FAM168B

NM_001009993.4:p.A158T

Associated Papers

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

Rivolta C et al.

Human Mutation, 2001

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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."