Varaico: Literature-Extracted Genetic Variants

Gene:NDC80
Variant:p.L86V
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NDC80

NM_006101.3:p.L86V

Associated Papers

A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature.

Uehara DT et al.

Human Genetics, 2021

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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."