Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.N234D
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XIAP

NM_001167.4:p.N234D

Associated Papers

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

Ernst A et al.

Molecular Syndromology, 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."