Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.G233Splc
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AGA

NM_000027.4:p.G233Splc

Associated Papers

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Kouhashi M et al.

Neurology. Genetics, 2024

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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."