Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.T116A
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COASY

NM_025233.7:p.T116A

Associated Papers

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.

Khalifa M et al.

European Journal of Medical Genetics, 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."