Varaico: Literature-Extracted Genetic Variants

Gene:NIT1
Variant:p.T66_C67delFs
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NIT1

NM_005600.3:p.T66_C67delFs

Associated Papers

Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.

Rutten JW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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