Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.G694V
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ABCA3

NM_001089.3:p.G694V

Associated Papers

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.

Kamolvisit W et al.

European Journal of Human Genetics : Ejhg, 2025

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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."