Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.C444Splc
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AAAS

NM_015665.6:p.C444Splc

Associated Papers

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

Luigetti M et al.

Journal of the Neurological Sciences, 2010

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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."