Varaico: Literature-Extracted Genetic Variants

Gene:DOCK6
Variant:p.N295N
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DOCK6

NM_020812.4:p.N295N

Associated Papers

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Sukalo M et al.

Human Mutation, 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."