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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENPP1

Variant:p.K171*

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ENPP1

NM_006208.3:p.K171*

hg38:chr6:131851222 A>T

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

36150100 (PubMed )

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