Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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You are viewing an old version of this page that was saved on May 2, 2011 at 5:57pm by Madeleine Ball.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM.
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of
infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010
Feb 12;86(2):267-72. Epub 2010 Feb 4. PubMed PMID: 20137773; PubMed Central