Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.M120_G122insFs
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F11

NM_000128.4:p.M120_G122insFs

Associated Papers

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Scala M et al.

Human Mutation, 2022

34989426 (PubMed )
Supplement: HUMU-43-403-s001.xlsx › Table_S1
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