Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.D500fs
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TULP1

NM_003322.6:p.D500fs

Associated Papers

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

Astuti GD et al.

European Journal of Human Genetics : Ejhg, 2016

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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."