Varaico: Literature-Extracted Genetic Variants

Gene:ASRGL1
Variant:p.G220A
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ASRGL1

NM_001083926.2:p.G220A

Associated Papers

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.

Amri Y et al.

Molecular Genetics and Genomics : Mgg, 2024

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

Spentchian M et al.

Human Mutation, 2003

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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."