Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.M1V
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RPE65

NM_000329.3:p.M1V

Associated Papers

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J et al.

Journal of Medical 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."