Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.A8_S9insFs
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NDP

NM_000266.4:p.A8_S9insFs

Associated Papers

A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report.

Wang H et al.

Medicine, 2022

Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation.

Li H et al.

Frontiers in Genetics, 2022

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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."