Associated Papers
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
Vial Y et al.
British Journal of Haematology, 2022
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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