Varaico: Literature-Extracted Genetic Variants

Gene:GLS
Variant:p.T405delFs
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GLS

NM_014905.5:p.T405delFs

Associated Papers

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Del Angel G et al.

Human Mutation, 2020

32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
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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."