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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AAAS

Variant:p.Q332_T333Splc

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AAAS

NM_015665.6:p.Q332_T333Splc

hg38:chr12:53308817 T>C

Associated Papers

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.

Vezzoli V et al.

Journal of Endocrinological Investigation, 2020

31939195 (PubMed )

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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."