Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.A169A
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GUCY2D

NM_000180.4:p.A169A

Associated Papers

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Thompson JA et al.

Molecular Genetics & Genomic Medicine, 2017

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."