Varaico: Literature-Extracted Genetic Variants

Gene:ENPP1
Variant:p.R476Q
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ENPP1

NM_006208.3:p.R476Q

Associated Papers

The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture.

Furukawa H et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).

Ferreira CR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33005041 (PubMed )
Supplement: NIHMS1634645-supplement-Table_S1.xlsx › Predicted_non-pathogenic
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