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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPL

Variant:p.L520delFs

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ALPL

NM_000478.6:p.L520delFs

hg38:chr1:21577630 CCT>C

Associated Papers

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.

Jandl NM et al.

Calcified Tissue International, 2021

33191482 (PubMed )

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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."