Varaico: Literature-Extracted Genetic Variants

Gene:ALG5
Variant:p.L22_I23Splc
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ALG5

NM_013338.5:p.L22_I23Splc

Associated Papers

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

Leroy JG

Pediatric Research, 2006

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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."