Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.P143L
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ALG13

NM_001099922.3:p.P143L

Associated Papers

[New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient].

Ramírez-Montaño D et al.

Andes Pediatrica : Revista Chilena De Pediatria, 2021

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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."