Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.G128S
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PTHLH

NM_198965.2:p.G128S

Associated Papers

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.

Sugiyama Y et al.

Orphanet Journal of Rare Diseases, 2022

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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."