Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H469Y
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ALPL

NM_000478.6:p.H469Y

Associated Papers

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations.

Li W et al.

Human Genome Variation, 2025

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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."