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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.S84_P85insAT

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ABCA4

NM_000350.3:p.S84_P85insAT

hg38:chr1:94111490 T>TNNNNNN

Associated Papers

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

Mäkeläinen S et al.

Plos Genetics, 2019

30889179 (PubMed )

Supplement: pgen.1007873.s007.xlsx › S3_Table

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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."