Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.L511del1
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ALPL

NM_000478.6:p.L511del1

Associated Papers

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene.

Tachikawa K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2023

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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."