Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.P2150delFs
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NOTCH2

NM_024408.4:p.P2150delFs

Associated Papers

First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant.

Tėvelytė I et al.

European Journal of Medical Genetics, 2024

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