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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPL

Variant:p.D370E

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ALPL

NM_000478.6:p.D370E

hg38:chr1:21575845 C>A

Associated Papers

The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.

Yu Y et al.

Nature Communications, 2023

37422472 (PubMed )

Supplement: 41467_2023_39833_MOESM1_ESM.pdf

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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."