Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P193A
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ALPL

NM_000478.6:p.P193A

Associated Papers

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.

Xiao F et al.

Plos Computational Biology, 2022

35320273 (PubMed )
Supplement: pcbi.1010009.s009.xlsx › Sheet1

Hypophosphatasia: molecular diagnosis of Rathbun's original case.

Mumm S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001

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