Varaico: Literature-Extracted Genetic Variants

Gene:ENPP1
Variant:p.D168H
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ENPP1

NM_006208.3:p.D168H

Associated Papers

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.

Chunn LM et al.

Orphanet Journal of Rare Diseases, 2022

36461014 (PubMed )
Supplement: 13023_2022_2577_MOESM2_ESM.xlsx › Supplemental_Table_1

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1013.391
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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."