Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.S147P
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AGA

NM_000027.4:p.S147P

Associated Papers

Common Genomic Aberrations in Mouse and Human Breast Cancers with Concurrent P53 Deficiency and Activated PTEN-PI3K-AKT Pathway.

Martinez JD et al.

International Journal of Biological Sciences, 2022

34975329 (PubMed )
Supplement: ijbsv18p0229s1.pdf

Aspartylglucosaminuria: Clinical Presentation and Potential Therapies.

Goodspeed K et al.

Journal of Child Neurology, 2021

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T et al.

Journal of Child Neurology, 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."