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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPL

Variant:p.R30_D31insFs

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ALPL

NM_000478.6:p.R30_D31insFs

hg38:chr1:21560654 A>AC

Associated Papers

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.

Wyckoff MH et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

15562030 (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."