Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.L22P
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ATAT1

NM_001413067.1:p.L22P

Associated Papers

A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.

Lorenz B et al.

Investigative Ophthalmology & Visual Science, 2008

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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."