Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.A255S
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WDR45

NM_007075.4:p.A255S

Associated Papers

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Haack TB et al.

American Journal of Human Genetics, 2012

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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."