Varaico: Literature-Extracted Genetic Variants

Gene:ENPP1
Variant:p.T256S
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ENPP1

NM_006208.3:p.T256S

Associated Papers

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Ralph D et al.

Human Mutation, 2022

Evidence that inhibition of insulin receptor signaling activity by PC-1/ENPP1 is dependent on its enzyme activity.

Chin CN et al.

European Journal of Pharmacology, 2009

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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."