Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E429D
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ALPL

NM_000478.6:p.E429D

Associated Papers

Clinical and genetic characteristics of hypophosphatasia in Chinese children.

Liu M et al.

Orphanet Journal of Rare Diseases, 2021

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Mao X et al.

Bmc Pediatrics, 2019

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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."