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Article

Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.

Bone - 1 Sept 2024

Ansh Anenya Jai, Stabach Paul R, Ciccone Carla, Cao Wenxiang, De La Cruz Enrique M, Sabbagh Yves, Carpenter Thomas O, Ferreira Carlos R, Braddock Demetrios T

Abstract excerpt

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) codes for a type 2 transmembrane glycoprotein which hydrolyzes extracellular phosphoanhydrides into bio-active molecules that regulate, inter alia, ectopic mineralization, bone formation, vascular endothelial proliferation, and the innate immune response. The clinical phenotypes produced by ENPP1 deficiency are disparate, ranging from life-threatening...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38806089
DOI: 10.1016/j.bone.2024.117136
PMCID: PMC11227391

Genes

ENPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.PMID 38806089Read ↗

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