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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIPL1

Variant:p.V214V

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AIPL1

NM_001033054.3:p.V214V

hg38:chr17:6425784 C>G

Associated Papers

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.

Bellingham J et al.

Investigative Ophthalmology & Visual Science, 2015

26650897 (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."