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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LCA5

Variant:p.E154_N155del1

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LCA5

NM_001122769.3:p.E154_N155del1

hg38:chr6:79513467 ATTT>A

Associated Papers

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Coppieters F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

22261762 (PubMed )

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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."