Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A14P
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PSEN1

NM_000021.4:p.A14P

Associated Papers

Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports.

Wu WJ et al.

World Journal of Clinical Cases, 2022

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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."