Varaico: Literature-Extracted Genetic Variants

Gene:ENPP1
Variant:p.D804E
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ENPP1

NM_006208.3:p.D804E

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
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