Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.L480P
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ALG12

NM_024105.4:p.L480P

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

Ziburová J et al.

American Journal of Medical Genetics. Part A, 2021

ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

Sturiale L et al.

Glycoconjugate Journal, 2019

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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."