Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.E690V
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ABCA3

NM_001089.3:p.E690V

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.

Chen P et al.

Investigative Ophthalmology & Visual Science, 2014

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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."