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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LCA5

Variant:p.E167G

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LCA5

NM_001122769.3:p.E167G

hg38:chr6:79513432 T>C

Associated Papers

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

Thompson JA et al.

Molecular Genetics & Genomic Medicine, 2017

29178642 (PubMed )

Supplement: MGG3-5-652-s001.pdf

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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."