Varaico: Literature-Extracted Genetic Variants

Gene:ENPP1
Variant:p.T369I
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ENPP1

NM_006208.3:p.T369I

Associated Papers

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.

Mercurio SA et al.

Human Mutation, 2022

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Caswell RC et al.

Genome Medicine, 2022

35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
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