Varaico: Literature-Extracted Genetic Variants

Gene:AADAT
Variant:p.S32L
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AADAT

NM_016228.4:p.S32L

Associated Papers

Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.

Li SJ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].

Liu Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

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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."