Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N104S
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ALPL

NM_000478.6:p.N104S

Associated Papers

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Sangar M et al.

Calcified Tissue International, 2025

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

Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred.

Bhadada SK et al.

Bone Reports, 2020

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