Varaico: Literature-Extracted Genetic Variants

Gene:ABI2
Variant:p.P408L
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ABI2

NM_005759.7:p.P408L

Associated Papers

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

Beunders G et al.

European Journal of Human Genetics : Ejhg, 2015

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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."